PMID: 20140262

Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.

PloS one
KK Ryckman, NH Morken, MJ White, DR Velez, R Menon, SJ Fortunato, P Magnus, SM Williams, B Jacobsson
2010-02-03

1274 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-234677659-C-T UGT1A1 c.1304+574C>T - IntronicSNV - 4/4
3-52264907-T-C TWF2 c.588A>G p.Lys196Lys Synonymous 6/9 -
1-186828117-A-G PLA2G4A c.33+4598A>G - IntronicSNV - 2/17
2-188388311-T-C TFPI c.1-19816A>G - IntronicSNV - 1/7
2-113591655-T-G IL1B c.100-503A>C - IntronicSNV - 3/6
2-113591655-T-A IL1B c.100-503A>T - IntronicSNV - 3/6
22-33221939-G-A TIMP3 c.122-23500G>A - IntronicSNV - 1/4
15-51546298-A-G CYP19A1 c.1-11189T>C - IntronicSNV - 1/9
15-51546298-A-T CYP19A1 c.1-11189T>A - IntronicSNV - 1/9
5-7875963-A-G MTRR c.401+475A>G - IntronicSNV - 4/14
X-118373306-A-C PGRMC1 c.329-966A>C - IntronicSNV - 1/2
16-50757276-G-A NOD2 c.2863G>A p.Val955Ile Missense 9/12 -
3-190300004-A-G IL1RAP c.64+17862A>G - IntronicSNV - 2/10
2-102634326-G-C IL1R2 c.514-1774G>C - IntronicSNV - 4/8
16-50745199-C-T NOD2 c.1377C>T p.Arg459Arg Synonymous 4/12 -
16-50745199-C-A NOD2 c.1377C>A p.Arg459Arg Synonymous 4/12 -
1-162781787-T-C HSD17B7 c.904-301T>C - IntronicSNV - 8/8
1-186846598-C-A PLA2G4A c.115+6950C>A - IntronicSNV - 3/17
13-33609924-T-G KL c.820-17980T>G - IntronicSNV - 1/4
1-169485859-T-A F5 c.6346-995A>T - IntronicSNV - 23/24
1-154389196-A-T IL6R c.85+11006A>T - IntronicSNV - 1/9
10-6077796-T-C IL2RA c.65-9808A>G - IntronicSNV - 1/7
9-125146111-G-A PTGS1 c.1009+77G>A - IntronicSNV - 8/10
5-142693846-A-G NR3C1 c.1185-113T>C - IntronicSNV - 2/8
15-51605408-A-G CYP19A1 c.-39+25284T>C - intron_variant - 1/9
1-209879846-T-G HSD11B1 c.220-208T>G - IntronicSNV - 2/5
1-226020988-G-A EPHX1 c.364+1328G>A - IntronicSNV - 3/8
3-190305874-C-T IL1RAP c.65-16043C>T - IntronicSNV - 2/10
8-27381194-G-C EPHX2 c.1058+1169G>C - IntronicSNV - 11/18
14-81560134-A-G TSHR c.545+1182A>G - IntronicSNV - 6/9
4-142637688-T-A IL15 c.1-4614T>A - IntronicSNV - 1/9
15-51568204-A-G CYP19A1 c.1-33095T>C - IntronicSNV - 1/9
10-6098824-T-C IL2RA c.64+5227A>G - IntronicSNV - 1/7
11-117021759-T-A PAFAH1B2 c.1-1405T>A - IntronicSNV - 1/5
11-117021759-T-C PAFAH1B2 c.1-1405T>C - IntronicSNV - 1/5
11-100969506-G-C PGR c.1790-6899C>G - IntronicSNV - 2/7
11-100969506-G-T PGR c.1790-6899C>A - IntronicSNV - 2/7
21-44488395-G-A CBS c.316+224C>T - IntronicSNV - 4/16
21-44488395-G-T CBS c.316+224C>A - IntronicSNV - 4/16
1-78961585-T-C PTGFR c.798+2359T>C - IntronicSNV - 2/2
2-102618370-A-G IL1R2 c.1-6668A>G - IntronicSNV - 1/8
2-188410351-G-T TFPI c.-3+8576C>A - intron_variant - 1/7
1-95004084-A-C F3 c.212+1729T>G - IntronicSNV - 2/5
1-95004084-A-T F3 c.212+1729T>A - IntronicSNV - 2/5
14-81604138-A-G TSHR c.693-1885A>G - IntronicSNV - 8/9
15-51539368-G-A CYP19A1 c.1-4259C>T - IntronicSNV - 1/9
11-100923166-C-G PGR c.2213-867G>C - IntronicSNV - 4/7
22-33196693-T-C SYN3 c.708+64209A>G - IntronicSNV - 6/13
7-94046541-G-T COL1A2 c.1864-495G>T - IntronicSNV - 31/51
3-190243717-G-T IL1RAP c.-2+11709G>T - intron_variant - 1/10
1-186649221-A-G PTGS2 c.52+150T>C - IntronicSNV - 1/9
1-186830420-C-T PLA2G4A c.33+6901C>T - IntronicSNV - 2/17
5-132018169-C-A IL4 c.361-9C>A - IntronicSNV - 3/3
2-102784833-A-G IL1R1 c.656-225A>G - IntronicSNV - 6/11
6-43747577-T-C VEGFA c.963-892T>C - IntronicSNV - 5/7
6-43747577-T-G VEGFA c.963-892T>G - IntronicSNV - 5/7
1-11860120-T-C MTHFR c.586+149A>G - IntronicSNV - 4/11
3-190237797-C-T IL1RAP c.-2+5789C>T - intron_variant - 1/10
1-186844926-C-T PLA2G4A c.115+5278C>T - IntronicSNV - 3/17
14-81551260-T-A TSHR c.318-3038T>A - IntronicSNV - 3/9
9-137701802-A-T COL5A1 c.3475-299A>T - IntronicSNV - 43/65
1-95005856-A-G F3 c.169T>C p.Trp57Arg Missense 2/6 -
1-169538544-C-T F5 c.373+2915G>A - IntronicSNV - 3/24
10-6063319-C-T IL2RA c.583+122G>A - IntronicSNV - 4/7
5-132012725-T-G IL4 c.183+2527T>G - IntronicSNV - 2/3
5-132012725-T-C IL4 c.183+2527T>C - IntronicSNV - 2/3
21-34652675-C-G IL10RB c.498+452C>G - IntronicSNV - 4/6
21-34652675-C-T IL10RB c.498+452C>T - IntronicSNV - 4/6
7-94936129-A-G PON1 c.699-451T>C - IntronicSNV - 6/8
7-94934573-G-A PON1 c.780+1024C>T - IntronicSNV - 7/8
14-64888055-C-T MTHFD1 c.727+1412C>T - IntronicSNV - 8/27
17-2578648-G-T PAFAH1B1 c.900+1066G>T - IntronicSNV - 8/10
7-94043239-C-T COL1A2 c.1645C>T p.Pro549Ser Missense 28/52 -
7-94054000-T-C COL1A2 c.2673+245T>C - IntronicSNV - 41/51
2-102788839-A-G IL1R1 c.840-308A>G - IntronicSNV - 8/11
2-113879297-G-A IL1RN c.73+1592G>A - IntronicSNV - 2/5
3-190287209-T-C IL1RAP c.64+5067T>C - IntronicSNV - 2/10
10-54525509-A-C MBL2 c.*2388T>G - 3-UTRSNV 4/4 -
17-61558229-A-G ACE c.848-223A>G - IntronicSNV - 5/24
1-226036309-A-G TMEM63A c.2188-54T>C - IntronicSNV - 22/24
22-33206863-G-T TIMP3 c.121+8755G>T - IntronicSNV - 1/4
7-94059236-G-A COL1A2 c.3955-323G>A - IntronicSNV - 51/51
X-12903480-A-T TLR7 c.4-151A>T - IntronicSNV - 2/2
17-2498049-A-G PAFAH1B1 c.-191+749A>G - intron_variant - 1/10
X-12903480-A-G TLR7 c.4-151A>G - IntronicSNV - 2/2
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
16-50765376-A-G NOD2 c.3051-282A>G - IntronicSNV - 11/11
16-27356667-T-G IL4R c.361+326T>G - IntronicSNV - 5/10
1-169488927-C-T F5 c.6193+831G>A - IntronicSNV - 22/24
7-30704159-A-T CRHR2 c.624+527T>A - IntronicSNV - 6/12
1-78968341-A-G PTGFR c.798+9115A>G - IntronicSNV - 2/2
12-6458274-G-C SCNN1A c.1497+56C>G - IntronicSNV - 10/12
12-6458274-G-A SCNN1A c.1497+56C>T - IntronicSNV - 10/12
2-102642127-G-A IL1R2 c.888-446G>A - IntronicSNV - 7/8
1-11867044-T-G CLCN6 c.88-144T>G - IntronicSNV - 1/22
1-11867044-T-A CLCN6 c.88-144T>A - IntronicSNV - 1/22
1-11867044-T-C CLCN6 c.88-144T>C - IntronicSNV - 1/22
1-78976570-A-T PTGFR c.798+17344A>T - IntronicSNV - 2/2
14-81553786-A-G TSHR c.318-512A>G - IntronicSNV - 3/9
17-28555425-G-C SLC6A4 c.-220-5492C>G - intron_variant - 1/14
1-78976570-A-G PTGFR c.798+17344A>G - IntronicSNV - 2/2
3-190275545-T-C IL1RAP c.1-6534T>C - IntronicSNV - 1/10
16-55522200-G-C MMP2 c.683-255G>C - IntronicSNV - 5/12
15-51519073-C-T CYP19A1 c.451+903G>A - IntronicSNV - 4/9
5-132014832-G-A IL4 c.184-574G>A - IntronicSNV - 2/3
1-12261972-A-G TNFRSF1B c.901-52A>G - IntronicSNV - 8/9
1-186857236-G-T PLA2G4A c.116-4907G>T - IntronicSNV - 3/17
7-94949537-T-C PON1 c.75-1832A>G - IntronicSNV - 1/8
1-186873704-T-G PLA2G4A c.379-2393T>G - IntronicSNV - 5/17
5-76264982-T-C CRHBP c.*272T>C - 3-UTRSNV 7/7 -
1-186831728-C-G PLA2G4A c.34-7839C>G - IntronicSNV - 2/17
1-186831728-C-A PLA2G4A c.34-7839C>A - IntronicSNV - 2/17
6-41246473-T-A TREM1 c.599+2226A>T - IntronicSNV - 3/3
2-189857993-T-C COL3A1 c.1051-94T>C - IntronicSNV - 15/50
3-190293505-A-G IL1RAP c.64+11363A>G - IntronicSNV - 2/10
2-102785799-C-T IL1R1 c.721+676C>T - IntronicSNV - 7/11
14-81598912-T-C TSHR c.693-7111T>C - IntronicSNV - 8/9
1-95004410-T-C F3 c.212+1403A>G - IntronicSNV - 2/5
22-33263431-C-T SYN3 c.618+1522G>A - IntronicSNV - 5/13
1-95005856-A-C F3 c.169T>G p.Trp57Gly Missense 2/6 -
7-94049356-T-A COL1A2 c.2080-189T>A - IntronicSNV - 34/51
7-94049356-T-C COL1A2 c.2080-189T>C - IntronicSNV - 34/51
19-44163994-A-C PLAUR c.311-3202T>G - IntronicSNV - 3/6
1-209900615-G-C HSD11B1 c.518-5166G>C - IntronicSNV - 4/5
2-102610275-G-C IL1R2 c.-62+1802G>C - intron_variant - 1/8
2-102779719-A-T IL1R1 c.62-1515A>T - IntronicSNV - 3/11
5-138710576-G-C SLC23A1 c.1561+2515C>G - IntronicSNV - 13/14
5-138710576-G-T SLC23A1 c.1561+2515C>A - IntronicSNV - 13/14
2-102779719-A-G IL1R1 c.62-1515A>G - IntronicSNV - 3/11
7-94029982-C-T COL1A2 c.225+382C>T - IntronicSNV - 5/51
10-75672961-G-A PLAU c.369-87G>A - IntronicSNV - 5/10
14-81611128-T-C TSHR c.*431T>C - 3-UTRSNV 10/10 -
10-90757787-A-C FAS c.31-4999A>C - IntronicSNV - 1/8
1-186816650-C-G PLA2G4A c.1-6837C>G - IntronicSNV - 1/17
16-55527891-G-A MMP2 c.1322+686G>A - IntronicSNV - 9/12
7-150700946-C-A NOS3 c.1752+1554C>A - IntronicSNV - 14/26
10-6063253-A-G IL2RA c.583+188T>C - IntronicSNV - 4/7
7-94040816-G-T COL1A2 c.1350+350G>T - IntronicSNV - 23/51
2-113539972-G-A IL1A c.96+321C>T - IntronicSNV - 3/6
11-102592590-G-C MMP8 c.348-97C>G - IntronicSNV - 2/9
15-51556594-C-T CYP19A1 c.1-21485G>A - IntronicSNV - 1/9
11-100924033-G-A PGR c.2213-1734C>T - IntronicSNV - 4/7
4-142594719-T-C IL15 c.-501-15256T>C - intron_variant - 2/9
5-7880835-C-T MTRR c.780+2400C>T - IntronicSNV - 5/14
1-154437896-T-C IL6R c.*40T>C - 3-UTRSNV 10/10 -
4-103534560-C-G NFKB1 c.2593-22C>G - IntronicSNV - 22/23
4-103534560-C-A NFKB1 c.2593-22C>A - IntronicSNV - 22/23
11-100926860-G-A PGR c.2213-4561C>T - IntronicSNV - 4/7
14-81573616-T-C TSHR c.615-1103T>C - IntronicSNV - 7/9
9-120480115-T-C TLR4 c.*3189T>C - IntergenicSNV 3/3 -
4-142594719-T-A IL15 c.-501-15256T>A - intron_variant - 2/9
7-94040816-G-C COL1A2 c.1350+350G>C - IntronicSNV - 23/51
14-81554617-A-G TSHR c.392+245A>G - IntronicSNV - 4/9
1-186952631-C-T PLA2G4A c.2118+4027C>T - IntronicSNV - 17/17
2-190023960-A-G COL5A2 c.97+20274T>C - IntronicSNV - 1/53
16-27370454-A-G IL4R c.849+139A>G - IntronicSNV - 9/10
3-190330777-T-A IL1RAP c.537+3807T>A - IntronicSNV - 4/10
15-51570853-G-A CYP19A1 c.1-35744C>T - IntronicSNV - 1/9
3-190330777-T-C IL1RAP c.537+3807T>C - IntronicSNV - 4/10
17-2554201-A-G PAFAH1B1 c.32+12587A>G - IntronicSNV - 2/10
10-6055604-C-A IL2RA c.795-745G>T - IntronicSNV - 7/7
1-169548892-C-A F5 c.250+2777G>T - IntronicSNV - 2/24
9-125155685-A-G PTGS1 c.*862A>G - 3-UTRSNV 11/11 -
4-123373292-G-A IL2 c.352-275C>T - IntronicSNV - 3/3
10-90769998-T-C FAS c.444-298T>C - IntronicSNV - 4/8
9-137678020-T-C COL5A1 c.2646+126T>C - IntronicSNV - 31/65
2-102791381-G-A IL1R1 c.1135+191G>A - IntronicSNV - 10/11
22-33224439-C-T TIMP3 c.122-21000C>T - IntronicSNV - 1/4
22-33252041-A-G TIMP3 c.205-1195A>G - IntronicSNV - 2/4
4-129195334-C-T PGRMC2 c.419-1662G>A - intron_variant - 1/2
16-55544549-G-A LPCAT2 c.171+1285G>A - IntronicSNV - 1/13
13-113793849-G-A F10 c.370+65G>A - IntronicSNV - 4/7
1-154430092-C-T IL6R c.1160+3035C>T - IntronicSNV - 9/9
11-100922404-A-C PGR c.2213-105T>G - IntronicSNV - 4/7
10-6095410-A-T IL2RA c.64+8641T>A - IntronicSNV - 1/7
22-33228692-A-G TIMP3 c.122-16747A>G - IntronicSNV - 1/4
8-27369334-A-G EPHX2 c.661-19A>G - IntronicSNV - 5/18
11-112031624-A-T IL18 c.-9+3005T>A - intron_variant - 1/5
21-34666160-A-G IL10RB c.805-2329A>G - IntronicSNV - 6/6
13-113773159-G-C F7 c.1238G>C p.Arg413Pro Missense 9/9 -
9-139792926-T-C TRAF2 c.1-267T>C - IntronicSNV - 1/10
4-142576023-A-G IL15 c.-623-1316A>G - intron_variant - 1/9
17-32583269-T-C CCL2 c.105T>C p.Cys35Cys Synonymous 2/3 -
1-154418879-C-T IL6R c.950-1722C>T - IntronicSNV - 6/9
21-44473446-A-G CBS c.*544T>C - 3-UTRSNV 17/17 -
10-54529257-A-G MBL2 c.305-182T>C - IntronicSNV - 2/3
2-188351063-T-A TFPI c.359-1349A>T - IntronicSNV - 4/7
22-33228692-A-T TIMP3 c.122-16747A>T - IntronicSNV - 1/4
11-112031624-A-G IL18 c.-9+3005T>C - intron_variant - 1/5
10-90774772-A-T FAS c.*565A>T - 3-UTRSNV 9/9 -
4-142570472-G-A IL15 c.-623-6867G>A - intron_variant - 1/9
8-27402777-G-A EPHX2 c.*738G>A - IntergenicSNV 19/19 -
17-28549898-G-C SLC6A4 c.-185C>G - 5_prime_UTR_variant 2/15 -
2-102776518-G-A IL1R1 c.61+2273G>A - IntronicSNV - 3/11
2-102783052-G-A IL1R1 c.655+311G>A - IntronicSNV - 6/11
3-190350461-A-G IL1RAP c.1051+3174A>G - IntronicSNV - 8/10
17-28549898-G-T SLC6A4 c.-185C>A - 5_prime_UTR_variant 2/15 -
6-161173946-T-G PLG c.2286T>G p.Gly762Gly Synonymous 19/19 -
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
19-44163061-T-C PLAUR c.311-2269A>G - IntronicSNV - 3/6
12-6435753-G-A PLEKHG6 c.1670+14G>A - IntronicSNV - 14/15
6-31777946-C-T HSPA1L c.1804G>A p.Glu602Lys Missense 2/2 -
11-100948110-C-G PGR c.1906+14381G>C - IntronicSNV - 3/7
21-34660001-C-T IL10RB c.647-408C>T - IntronicSNV - 5/6
2-234681645-G-C UGT1A1 c.*440G>C - 3-UTRSNV 5/5 -
11-100961182-G-A PGR c.1906+1309C>T - IntronicSNV - 3/7
1-186947224-G-C PLA2G4A c.1960+304G>C - IntronicSNV - 16/17
7-94937893-G-A PON1 c.498-370C>T - IntronicSNV - 5/8
1-12267999-C-T TNFRSF1B c.*922C>T - 3-UTRSNV 10/10 -
7-95061921-A-G PON2 c.74+2269T>C - IntronicSNV - 1/8
1-12249031-A-G TNFRSF1B c.178+79A>G - IntronicSNV - 2/9
16-27373915-G-T IL4R c.1242G>T p.Leu414Leu Synonymous 11/11 -
1-11852300-C-G MTHFR c.1632+35G>C - IntronicSNV - 10/11
5-142720726-T-C NR3C1 c.1185-26993A>G - IntronicSNV - 2/8
15-51606578-T-C CYP19A1 c.-39+24114A>G - intron_variant - 1/9
7-94033800-A-G COL1A2 c.280-68A>G - IntronicSNV - 6/51
3-190281376-C-T IL1RAP c.1-703C>T - IntronicSNV - 1/10
15-51558731-G-A CYP19A1 c.1-23622C>T - IntronicSNV - 1/9
19-44162233-A-G PLAUR c.311-1441T>C - IntronicSNV - 3/6
2-189844000-A-G COL3A1 c.79+4706A>G - IntronicSNV - 1/50
1-226024797-T-C EPHX1 c.365-1558T>C - IntronicSNV - 3/8
15-51530097-T-C CYP19A1 c.146-891A>G - IntronicSNV - 2/9
1-169541513-C-T F5 c.319G>A p.Asp107Asn Missense 3/25 -
9-125151884-T-A PTGS1 c.1297-593T>A - IntronicSNV - 9/10
3-190327521-G-A IL1RAP c.537+551G>A - IntronicSNV - 4/10
22-33254283-T-A TIMP3 c.438+158T>A - IntronicSNV - 4/4
1-169541513-C-G F5 c.319G>C p.Asp107His Missense 3/25 -
14-81591754-T-C TSHR c.693-14269T>C - IntronicSNV - 8/9
16-27375787-A-G IL4R c.*636A>G - 3-UTRSNV 11/11 -
22-33244421-A-T TIMP3 c.122-1018A>T - IntronicSNV - 1/4
17-48267291-G-T COL1A1 c.2560-18C>A - IntronicSNV - 36/50
1-154380784-T-C IL6R c.85+2594T>C - IntronicSNV - 1/9
22-33210005-C-T TIMP3 c.121+11897C>T - IntronicSNV - 1/4
7-94925614-C-T PPP1R9A c.*5999C>T - 3-UTRSNV 20/20 -
7-94925614-C-A PPP1R9A c.*5999C>A - 3-UTRSNV 20/20 -
8-18068074-A-G NAT1 c.-86+385A>G - intron_variant - 1/2
8-18068074-A-T NAT1 c.-86+385A>T - intron_variant - 1/2
14-81498066-C-T TSHR c.171-30426C>T - IntronicSNV - 1/9
17-48267291-G-A COL1A1 c.2560-18C>T - IntronicSNV - 36/50
17-48267291-G-C COL1A1 c.2560-18C>G - IntronicSNV - 36/50
3-190309603-A-T IL1RAP c.65-12314A>T - IntronicSNV - 2/10
3-190309603-A-C IL1RAP c.65-12314A>C - IntronicSNV - 2/10
15-51592543-C-T CYP19A1 c.-39+38149G>A - intron_variant - 1/9
1-236987790-G-T MTR c.865+271G>T - IntronicSNV - 9/32
7-95054257-T-C PON2 c.75-360A>G - IntronicSNV - 1/8
7-95054257-T-A PON2 c.75-360A>T - IntronicSNV - 1/8
16-55519607-C-T MMP2 c.600C>T p.Thr200Thr Synonymous 5/13 -
19-39387829-T-G SIRT2 c.-49+2317A>C - intron_variant - 1/12
1-186873230-C-T PLA2G4A c.379-2867C>T - IntronicSNV - 5/17
7-94025924-A-G COL1A2 c.71-1136A>G - IntronicSNV - 1/51
9-125144423-G-T PTGS1 c.762+397G>T - IntronicSNV - 7/10
9-125144423-G-C PTGS1 c.762+397G>C - IntronicSNV - 7/10
1-12240824-T-C TNFRSF1B c.79-8029T>C - IntronicSNV - 1/9
10-90755056-T-A FAS c.30+4393T>A - IntronicSNV - 1/8
7-95034821-A-T PON2 c.907-21T>A - IntronicSNV - 8/8
1-169521849-T-C F5 c.1242A>G p.Lys414Lys Synonymous 8/25 -
5-76027823-A-C F2R c.89-316A>C - IntronicSNV - 1/1
5-76027823-A-T F2R c.89-316A>T - IntronicSNV - 1/1
6-43742527-G-A VEGFA c.658+398G>A - IntronicSNV - 2/7
3-190354246-A-T IL1RAP c.1051+6959A>T - IntronicSNV - 8/10
1-186848093-G-A PLA2G4A c.115+8445G>A - IntronicSNV - 3/17
3-190363116-A-G IL1RAP c.1202-372A>G - IntronicSNV - 9/10
8-27381996-C-G EPHX2 c.1059-883C>G - IntronicSNV - 11/18
4-103537442-C-T NFKB1 c.2750-149C>T - IntronicSNV - 23/23
2-189998339-C-G COL5A2 c.98-23164G>C - IntronicSNV - 1/53
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
22-33251033-G-A TIMP3 c.205-2203G>A - IntronicSNV - 2/4
2-102622376-A-G IL1R2 c.1-2662A>G - IntronicSNV - 1/8
22-39062194-T-C CBY1 c.1-1866T>C - IntronicSNV - 1/4
22-39062194-T-G CBY1 c.1-1866T>G - IntronicSNV - 1/4
7-100774749-A-G SERPINE1 c.506-407A>G - IntronicSNV - 3/8
8-18075906-T-A NAT1 c.1-3651T>A - IntronicSNV - 1/2
13-33592193-C-A KL c.819+796C>A - IntronicSNV - 1/4
16-27371949-A-G IL4R c.850-138A>G - IntronicSNV - 9/10
13-113792390-G-C F10 c.232-381G>C - IntronicSNV - 2/7
3-190294208-G-T IL1RAP c.64+12066G>T - IntronicSNV - 2/10
2-102788125-G-T IL1R1 c.722-136G>T - IntronicSNV - 7/11
10-6055604-C-T IL2RA c.795-745G>A - IntronicSNV - 7/7
2-189998339-C-T COL5A2 c.98-23164G>A - IntronicSNV - 1/53
16-55520060-G-A MMP2 c.682+371G>A - IntronicSNV - 5/12
14-81575454-T-C TSHR c.692+658T>C - IntronicSNV - 8/9
16-27367334-C-T IL4R c.770+106C>T - IntronicSNV - 8/10
3-190338659-A-C IL1RAP c.703+430A>C - IntronicSNV - 5/10
7-94036547-C-T COL1A2 c.595-612C>T - IntronicSNV - 12/51
10-6087295-G-T IL2RA c.64+16756C>A - IntronicSNV - 1/7
17-2577177-A-T PAFAH1B1 c.672-177A>T - IntronicSNV - 7/10
22-37525731-A-G IL2RB c.904-843T>C - IntronicSNV - 9/9
7-30707302-G-T CRHR2 c.311-373C>A - IntronicSNV - 3/12
15-51515351-C-T CYP19A1 c.452-629G>A - IntronicSNV - 4/9
17-48269903-A-G COL1A1 c.1930-14T>C - IntronicSNV - 28/50
17-2561297-T-C PAFAH1B1 c.33-7369T>C - IntronicSNV - 2/10
19-39399277-C-T NFKBIB c.970-94C>T - IntronicSNV - 5/5
6-41250961-A-G TREM1 c.50-472T>C - IntronicSNV - 1/3
X-12894442-G-T TLR7 c.3+8742G>T - IntronicSNV - 2/2
X-12894442-G-C TLR7 c.3+8742G>C - IntronicSNV - 2/2
X-12894442-G-A TLR7 c.3+8742G>A - IntronicSNV - 2/2
1-159683099-G-T CRP c.*216C>A - 3-UTRSNV 2/2 -
3-190347732-T-A IL1RAP c.1051+445T>A - IntronicSNV - 8/10
3-190347732-T-C IL1RAP c.1051+445T>C - IntronicSNV - 8/10
2-189960329-A-G COL5A2 c.456+1674T>C - IntronicSNV - 6/53
6-161126323-C-A PLG c.50-1116C>A - IntronicSNV - 1/18
13-33615948-T-G KL c.820-11956T>G - IntronicSNV - 1/4
10-104157711-T-A NFKB2 c.662-27T>A - IntronicSNV - 8/22
22-33240290-A-G TIMP3 c.122-5149A>G - IntronicSNV - 1/4
1-186816650-C-A PLA2G4A c.1-6837C>A - IntronicSNV - 1/17
11-100905056-C-T PGR c.*4791G>A - 3-UTRSNV 8/8 -
1-186913827-A-C PLA2G4A c.1034-1942A>C - IntronicSNV - 10/17
6-161126323-C-T PLG c.50-1116C>T - IntronicSNV - 1/18
8-27400604-C-T EPHX2 c.1450-662C>T - IntronicSNV - 16/18
4-154631587-C-G RNF175 c.921G>C p.Leu307Phe Missense 9/9 -
2-189841613-A-G COL3A1 c.79+2319A>G - IntronicSNV - 1/50
15-51613811-T-C CYP19A1 c.-39+16881A>G - intron_variant - 1/9
5-132425049-A-G HSPA4 c.1244+196A>G - IntronicSNV - 10/18
15-51572260-G-A CYP19A1 c.1-37151C>T - IntronicSNV - 1/9
6-161170835-A-G PLG c.2126-2312A>G - IntronicSNV - 17/18
14-81468954-G-A TSHR c.170+46760G>A - IntronicSNV - 1/9
14-81468954-G-C TSHR c.170+46760G>C - IntronicSNV - 1/9
2-102624786-C-T IL1R2 c.1-252C>T - IntronicSNV - 1/8
15-51572260-G-C CYP19A1 c.1-37151C>G - IntronicSNV - 1/9
15-51569410-A-G CYP19A1 c.1-34301T>C - IntronicSNV - 1/9
4-103443569-G-A NFKB1 c.1-3107G>A - IntronicSNV - 1/23
7-45957055-G-C IGFBP3 c.422-17C>G - IntronicSNV - 1/4
8-18257280-C-T NAT2 c.1-234C>T - IntronicSNV - 1/1
14-64887711-G-A MTHFD1 c.727+1068G>A - IntronicSNV - 8/27
4-142647323-C-T IL15 c.115-1770C>T - IntronicSNV - 7/9
22-33193050-G-T SYN3 c.708+67852C>A - IntronicSNV - 6/13
22-33193050-G-A SYN3 c.708+67852C>T - IntronicSNV - 6/13
22-37533068-C-T IL2RB c.537+559G>A - IntronicSNV - 6/9
7-95049818-T-C PON2 c.145+4009A>G - IntronicSNV - 2/8
15-51592543-C-A CYP19A1 c.-39+38149G>T - intron_variant - 1/9
16-55534236-G-A MMP2 c.1619+1876G>A - IntronicSNV - 11/12
14-81442055-T-C TSHR c.170+19861T>C - IntronicSNV - 1/9
4-103515591-G-C NFKB1 c.1211-458G>C - IntronicSNV - 12/23
6-41244567-C-G TREM1 c.600-599G>C - IntronicSNV - 3/3
11-100917610-G-T PGR c.2488+3050C>A - IntronicSNV - 6/7
11-100917610-G-C PGR c.2488+3050C>G - IntronicSNV - 6/7
X-12887416-G-T TLR7 c.3+1716G>T - IntronicSNV - 2/2
22-33254629-G-A TIMP3 c.438+504G>A - IntronicSNV - 4/4
3-190361497-G-T IL1RAP c.1052-540G>T - IntronicSNV - 8/10
5-7875963-A-C MTRR c.401+475A>C - IntronicSNV - 4/14
14-81449363-G-A TSHR c.170+27169G>A - IntronicSNV - 1/9
1-186846598-C-T PLA2G4A c.115+6950C>T - IntronicSNV - 3/17
8-27369334-A-C EPHX2 c.661-19A>C - IntronicSNV - 5/18
9-120481856-G-T TLR4 c.*4930G>T - IntergenicSNV 3/3 -
6-161136294-G-A PLG c.668+348G>A - IntronicSNV - 6/18
1-159684186-T-C CRP c.61+29A>G - IntronicSNV - 1/1
1-159684186-T-A CRP c.61+29A>T - IntronicSNV - 1/1
10-6078079-C-A IL2RA c.65-10091G>T - IntronicSNV - 1/7
1-237059387-A-T MTR c.3598+537A>T - IntronicSNV - 31/32
1-11857788-G-A MTHFR c.587-1332C>T - IntronicSNV - 4/11
17-2563261-T-C PAFAH1B1 c.33-5405T>C - IntronicSNV - 2/10
1-172632957-A-T FASLG c.395-517A>T - IntronicSNV - 2/3
14-81611606-C-T TSHR c.*909C>T - 3-UTRSNV 10/10 -
1-154432420-T-C IL6R c.1161-5190T>C - IntronicSNV - 9/9
5-79950781-A-G DHFR c.1-473T>C - 5-UTRSNV 1/6 -
5-79950781-A-T DHFR c.1-473T>A - 5-UTRSNV 1/6 -
2-188331704-C-T TFPI c.874G>A p.Val292Met Missense 8/8 -
2-102627122-C-T IL1R2 c.332+834C>T - IntronicSNV - 3/8
19-44163781-A-T PLAUR c.311-2989T>A - IntronicSNV - 3/6
3-190361497-G-A IL1RAP c.1052-540G>A - IntronicSNV - 8/10
7-30717043-G-A CRHR2 c.310+4488C>T - IntronicSNV - 3/12
1-154437896-T-A IL6R c.*40T>A - 3-UTRSNV 10/10 -
7-94949801-G-A PON1 c.75-2096C>T - IntronicSNV - 1/8
10-6063674-T-A IL2RA c.368-18A>T - IntronicSNV - 3/7
10-6063674-T-C IL2RA c.368-18A>G - IntronicSNV - 3/7
11-100922404-A-T PGR c.2213-105T>A - IntronicSNV - 4/7
2-102794282-G-A IL1R1 c.*1063G>A - 3-UTRSNV 12/12 -
7-94033031-T-C COL1A2 c.280-837T>C - IntronicSNV - 6/51
4-103457585-G-T NFKB1 c.160-1430G>T - IntronicSNV - 4/23
1-209879599-C-T HSD11B1 c.219+313C>T - IntronicSNV - 2/5
1-169500590-C-A F5 c.4972-330G>T - IntronicSNV - 14/24
3-190332654-C-T IL1RAP c.538-5410C>T - IntronicSNV - 4/10
12-6435753-G-C PLEKHG6 c.1670+14G>C - IntronicSNV - 14/15
10-104156383-T-G NFKB2 c.145-99T>G - IntronicSNV - 4/22
12-6446777-G-A TNFRSF1A c.40-3367C>T - IntronicSNV - 1/9
1-161495885-T-G HSPA6 c.1437T>G p.Thr479Thr Synonymous 1/1 -
1-161495885-T-C HSPA6 c.1437T>C p.Thr479Thr Synonymous 1/1 -
22-33251033-G-T TIMP3 c.205-2203G>T - IntronicSNV - 2/4
10-75673101-T-C PLAU c.422T>C p.Leu141Pro Missense 6/11 -
1-78992817-C-T PTGFR c.799-9274C>T - IntronicSNV - 2/2
4-103444698-C-T NFKB1 c.1-1978C>T - IntronicSNV - 1/23
14-81422868-G-C TSHR c.170+674G>C - IntronicSNV - 1/9
16-55533270-A-G MMP2 c.1619+910A>G - IntronicSNV - 11/12
11-102668702-T-C MMP1 c.105+17A>G - IntronicSNV - 1/9
8-27363136-A-G EPHX2 c.537+473A>G - IntronicSNV - 4/18
22-33252224-C-G TIMP3 c.205-1012C>G - IntronicSNV - 2/4
10-104162770-G-C PSD c.*187C>G - 3-UTRSNV 18/18 -
10-104162770-G-A PSD c.*187C>T - 3-UTRSNV 18/18 -
4-187001292-C-T TLR3 c.633+1107C>T - IntronicSNV - 3/4
4-187001292-C-A TLR3 c.633+1107C>A - IntronicSNV - 3/4
11-100972336-T-C PGR c.1790-9729A>G - IntronicSNV - 2/7
14-81485149-G-A TSHR c.171-43343G>A - IntronicSNV - 1/9
2-188370232-T-C TFPI c.1-1737A>G - IntronicSNV - 1/7
11-100972336-T-G PGR c.1790-9729A>C - IntronicSNV - 2/7
5-132423764-T-C HSPA4 c.986-332T>C - IntronicSNV - 8/18
16-27367999-C-T IL4R c.770+771C>T - IntronicSNV - 8/10
14-81445245-G-A TSHR c.170+23051G>A - IntronicSNV - 1/9
16-27367999-C-G IL4R c.770+771C>G - IntronicSNV - 8/10
5-76114859-C-G F2RL1 c.1-149C>G - 5-UTRSNV 1/2 -
5-132423969-G-T HSPA4 c.986-127G>T - IntronicSNV - 8/18
11-117032125-G-T PAFAH1B2 c.288+148G>T - IntronicSNV - 4/5
5-132423969-G-A HSPA4 c.986-127G>A - IntronicSNV - 8/18
22-33216760-A-G TIMP3 c.121+18652A>G - IntronicSNV - 1/4
3-190281591-A-T IL1RAP c.1-488A>T - IntronicSNV - 1/10
10-90769886-G-T FAS c.444-410G>T - IntronicSNV - 4/8
12-6450639-T-C TNFRSF1A c.39+303A>G - IntronicSNV - 1/9
7-94056006-A-G COL1A2 c.3105+164A>G - IntronicSNV - 46/51
2-190036018-A-G COL5A2 c.97+8216T>C - IntronicSNV - 1/53
22-37528362-T-G IL2RB c.903+62A>C - IntronicSNV - 9/9
11-102661595-A-G MMP1 c.1197-58T>C - IntronicSNV - 8/9
15-51530167-G-A CYP19A1 c.146-961C>T - IntronicSNV - 2/9
1-169523249-A-T F5 c.1118+1171T>A - IntronicSNV - 7/24
8-42055146-C-T PLAT c.1-4443G>A - IntronicSNV - 1/13
22-37523692-T-G IL2RB c.*444A>C - 3-UTRSNV 10/10 -
2-234667582-A-C UGT1A4 c.868-8098A>C - IntronicSNV - 1/4
2-234667582-A-G UGT1A4 c.868-8098A>G - IntronicSNV - 1/4
13-33635463-T-C KL c.2247T>C p.Ala749Ala Synonymous 4/5 -
2-113890586-C-G IL1RN c.*138C>G - 3-UTRSNV 6/6 -
10-90769886-G-A FAS c.444-410G>A - IntronicSNV - 4/8
15-51542757-C-T CYP19A1 c.1-7648G>A - IntronicSNV - 1/9
11-102666164-T-C MMP1 c.781+19A>G - IntronicSNV - 5/9
2-234667582-A-T UGT1A4 c.868-8098A>T - IntronicSNV - 1/4
16-55527422-T-C MMP2 c.1322+217T>C - IntronicSNV - 9/12
14-81567678-G-A TSHR c.614+4627G>A - IntronicSNV - 7/9
1-186855206-T-C PLA2G4A c.116-6937T>C - IntronicSNV - 3/17
2-234679974-C-G UGT1A1 c.1305-934C>G - IntronicSNV - 4/4
2-102629530-G-A IL1R2 c.333-2803G>A - IntronicSNV - 3/8
1-12268499-G-A TNFRSF1B c.*1422G>A - 3-UTRSNV 10/10 -
13-33622695-C-T KL c.820-5209C>T - IntronicSNV - 1/4
17-2574821-G-T PAFAH1B1 c.569-1128G>T - IntronicSNV - 6/10
5-76129053-T-C F2RL1 c.621T>C p.Ile207Ile Synonymous 2/2 -
10-6080794-C-G IL2RA c.65-12806G>C - IntronicSNV - 1/7
19-39397697-T-C NFKBIB c.620-164T>C - IntronicSNV - 3/5
2-189952632-G-T COL5A2 c.645+789C>A - IntronicSNV - 8/53
7-94046676-C-T COL1A2 c.1864-360C>T - IntronicSNV - 31/51
6-161137990-G-A PLG c.787+195G>A - IntronicSNV - 7/18
10-6056294-T-C IL2RA c.795-1435A>G - IntronicSNV - 7/7
14-81457856-C-T TSHR c.170+35662C>T - IntronicSNV - 1/9
2-189952632-G-A COL5A2 c.645+789C>T - IntronicSNV - 8/53
2-189856671-C-T COL3A1 c.951+223C>T - IntronicSNV - 13/50
7-94948626-A-C PON1 c.75-921T>G - IntronicSNV - 1/8
13-113773159-G-A F7 c.1238G>A p.Arg413Gln Missense 9/9 -
11-100932603-T-C PGR c.2212+575A>G - IntronicSNV - 4/7
13-113773159-G-T F7 c.1238G>T p.Arg413Leu Missense 9/9 -
6-31778272-G-C HSPA1L c.1478C>G p.Thr493Arg Missense 2/2 -
15-51534547-C-T CYP19A1 c.145+418G>A - IntronicSNV - 2/9
15-51534547-C-A CYP19A1 c.145+418G>T - IntronicSNV - 2/9
5-76012913-C-G F2R c.88+693C>G - IntronicSNV - 1/1
22-31011557-T-C TCN2 c.754-31T>C - IntronicSNV - 5/8
3-190238043-C-T IL1RAP c.-2+6035C>T - intron_variant - 1/10
17-28543389-C-A SLC6A4 c.838-155G>T - IntronicSNV - 6/14
15-51527398-A-G CYP19A1 c.296+1658T>C - IntronicSNV - 3/9
2-234674476-A-G UGT1A1 c.865-1204A>G - IntronicSNV - 1/4
14-81427552-T-C TSHR c.170+5358T>C - IntronicSNV - 1/9
9-137734232-C-T COL5A1 c.*83C>T - 3-UTRSNV 66/66 -
1-186645927-C-T PTGS2 c.723+38G>A - IntronicSNV - 6/9
13-113780910-T-C F10 c.71-2856T>C - IntronicSNV - 1/7
10-6069561-G-A IL2RA c.65-1573C>T - IntronicSNV - 1/7
1-11865542-A-C MTHFR c.-14+403T>G - intron_variant - 1/11
17-28550814-G-C SLC6A4 c.-220-881C>G - intron_variant - 1/14
17-28550814-G-A SLC6A4 c.-220-881C>T - intron_variant - 1/14
7-94033112-C-T COL1A2 c.280-756C>T - IntronicSNV - 6/51
7-94033112-C-G COL1A2 c.280-756C>G - IntronicSNV - 6/51
14-35871093-C-T NFKBIA c.*126G>A - 3-UTRSNV 6/6 -
7-100777267-T-C SERPINE1 c.899+93T>C - IntronicSNV - 5/8
14-81473990-T-C TSHR c.170+51796T>C - IntronicSNV - 1/9
1-162776526-A-G HSD17B7 c.903+1244A>G - IntronicSNV - 8/8
2-189852115-T-C COL3A1 c.528+250T>C - IntronicSNV - 5/50
2-189852115-T-A COL3A1 c.528+250T>A - IntronicSNV - 5/50
7-94035892-C-T COL1A2 c.594+277C>T - IntronicSNV - 12/51
4-186991137-A-C TLR3 c.-8+735A>C - intron_variant - 1/4
4-100236762-C-T ADH1B c.567+293G>A - IntronicSNV - 5/8
14-81457406-T-C TSHR c.170+35212T>C - IntronicSNV - 1/9
5-76016975-G-A F2R c.88+4755G>A - IntronicSNV - 1/1
11-102667063-C-T MMP1 c.625+332G>A - IntronicSNV - 4/9
7-94927924-C-T PON1 c.*332G>A - 3-UTRSNV 9/9 -
16-55543647-G-T LPCAT2 c.171+383G>T - IntronicSNV - 1/13
1-186879043-A-G PLA2G4A c.417-1337A>G - IntronicSNV - 6/17
16-55543647-G-C LPCAT2 c.171+383G>C - IntronicSNV - 1/13
16-55543647-G-A LPCAT2 c.171+383G>A - IntronicSNV - 1/13
14-81610869-C-A TSHR c.*172C>A - 3-UTRSNV 10/10 -
3-190304172-G-C IL1RAP c.65-17745G>C - IntronicSNV - 2/10
1-11857951-T-A MTHFR c.587-1495A>T - IntronicSNV - 4/11
1-154382049-T-G IL6R c.85+3859T>G - IntronicSNV - 1/9
1-11857951-T-C MTHFR c.587-1495A>G - IntronicSNV - 4/11
7-94923856-G-C PPP1R9A c.*4241G>C - 3-UTRSNV 20/20 -
7-94923856-G-T PPP1R9A c.*4241G>T - 3-UTRSNV 20/20 -
1-169497926-T-G F5 c.5420-594A>C - IntronicSNV - 16/24
4-103501054-C-T NFKB1 c.731-638C>T - IntronicSNV - 8/23
22-37533530-G-C IL2RB c.537+97C>G - IntronicSNV - 6/9
22-37541998-G-A IL2RB c.1-1786C>T - IntronicSNV - 1/9
7-30714436-A-G CRHR2 c.310+7095T>C - IntronicSNV - 3/12
1-236972728-C-T MTR c.409+655C>T - IntronicSNV - 4/32
4-142637305-A-G IL15 c.-287-3226A>G - intron_variant - 3/9
4-187003025-C-G TLR3 c.634-449C>G - IntronicSNV - 3/4
11-117860582-A-G IL10RA c.367+247A>G - IntronicSNV - 3/6
4-103501054-C-G NFKB1 c.731-638C>G - IntronicSNV - 8/23
2-188348670-T-G TFPI c.628+181A>C - IntronicSNV - 6/7
1-186851216-G-A PLA2G4A c.116-10927G>A - IntronicSNV - 3/17
4-100241575-T-C ADH1B c.18+896A>G - IntronicSNV - 1/8
4-100241575-T-G ADH1B c.18+896A>C - IntronicSNV - 1/8
7-150689397-A-T NOS3 c.-52+1009A>T - intron_variant - 1/26
10-14894901-T-C HSPA14 c.734+371T>C - IntronicSNV - 8/13
7-94047677-C-T COL1A2 c.1972-134C>T - IntronicSNV - 32/51
9-137687314-C-T COL5A1 c.2799+153C>T - IntronicSNV - 34/65
10-14891406-G-A HSPA14 c.377-314G>A - IntronicSNV - 5/13
14-64886426-C-G MTHFD1 c.616-106C>G - IntronicSNV - 7/27
3-190240590-A-T IL1RAP c.-2+8582A>T - intron_variant - 1/10
17-18256979-C-T SHMT1 c.242+7G>A - IntronicSNV - 3/11
14-64886426-C-T MTHFD1 c.616-106C>T - IntronicSNV - 7/27
14-81572310-T-C TSHR c.615-2409T>C - IntronicSNV - 7/9
5-76117768-C-A F2RL1 c.82+2679C>A - IntronicSNV - 1/1
7-94949663-A-G PON1 c.75-1958T>C - IntronicSNV - 1/8
21-34653666-G-A IL10RB c.498+1443G>A - IntronicSNV - 4/6
4-103526674-A-G NFKB1 c.1753-979A>G - IntronicSNV - 16/23
6-161133651-G-A PLG c.408-367G>A - IntronicSNV - 4/18
7-30714301-T-G CRHR2 c.310+7230A>C - IntronicSNV - 3/12
5-76117768-C-T F2RL1 c.82+2679C>T - IntronicSNV - 1/1
1-169500481-G-A F5 c.4972-221C>T - IntronicSNV - 14/24
1-154426947-T-A IL6R c.1067-17T>A - IntronicSNV - 8/9
1-226019774-G-A EPHX1 c.364+114G>A - IntronicSNV - 3/8
3-190290630-G-C IL1RAP c.64+8488G>C - IntronicSNV - 2/10
21-34655623-A-G IL10RB c.646+77A>G - IntronicSNV - 5/6
7-100775686-G-T SERPINE1 c.700+336G>T - IntronicSNV - 4/8
14-81574283-T-C TSHR c.615-436T>C - IntronicSNV - 7/9
15-51501117-T-C CYP19A1 c.*1888A>G - 3-UTRSNV 10/10 -
15-51501117-T-A CYP19A1 c.*1888A>T - 3-UTRSNV 10/10 -
8-42037924-T-G PLAT c.1086-28A>C - IntronicSNV - 10/13
8-42037924-T-A PLAT c.1086-28A>T - IntronicSNV - 10/13
9-137620847-A-C COL5A1 c.924+194A>C - IntronicSNV - 6/65
6-31783507-G-C HSPA1A c.1-27G>C - 5-UTRSNV 1/1 -
1-169493953-A-C F5 c.5788+122T>G - IntronicSNV - 19/24
17-28561755-A-T SLC6A4 c.-221+876T>A - intron_variant - 1/14
16-27370454-A-T IL4R c.849+139A>T - IntronicSNV - 9/10
10-14901929-C-G HSPA14 c.993+3987C>G - IntronicSNV - 10/13
13-113777509-A-G F10 c.70+270A>G - IntronicSNV - 1/7
11-102590717-G-A MMP8 c.623-1411C>T - IntronicSNV - 4/9
17-2573173-A-T PAFAH1B1 c.400-284A>T - IntronicSNV - 5/10
11-102708787-G-A MMP3 c.1229+495C>T - IntronicSNV - 8/9
9-137620847-A-T COL5A1 c.924+194A>T - IntronicSNV - 6/65
7-94948841-C-T PON1 c.75-1136G>A - IntronicSNV - 1/8
2-234679974-C-T UGT1A1 c.1305-934C>T - IntronicSNV - 4/4
17-28525011-A-C SLC6A4 c.*463T>G - 3-UTRSNV 15/15 -
16-50756774-C-G NOD2 c.2798+158C>G - IntronicSNV - 8/11
2-234679974-C-A UGT1A1 c.1305-934C>A - IntronicSNV - 4/4
3-190308527-G-A IL1RAP c.65-13390G>A - IntronicSNV - 2/10
19-41864509-T-A B9D2 c.89-582A>T - IntronicSNV - 2/3
3-12194085-T-C SYN2 c.774+1259T>C - intron_variant - 6/13
1-209900615-G-T HSD11B1 c.518-5166G>T - IntronicSNV - 4/5
3-190308527-G-T IL1RAP c.65-13390G>T - IntronicSNV - 2/10
15-51503677-T-G CYP19A1 c.1264-424A>C - IntronicSNV - 9/9
2-102794603-A-G IL1R1 c.*1384A>G - 3-UTRSNV 12/12 -
15-51613811-T-G CYP19A1 c.-39+16881A>C - intron_variant - 1/9
14-81495039-C-T TSHR c.171-33453C>T - IntronicSNV - 1/9
22-33236544-G-A TIMP3 c.122-8895G>A - IntronicSNV - 1/4
1-169505158-T-C F5 c.4971+586A>G - IntronicSNV - 14/24
12-102796522-G-T IGF1 c.403-178C>A - IntronicSNV - 3/3
22-33259104-A-G SYN3 c.708+1798T>C - IntronicSNV - 6/13
15-51540387-G-A CYP19A1 c.1-5278C>T - IntronicSNV - 1/9
5-7885959-A-G MTRR c.1049A>G p.Lys350Arg Missense 7/15 -
16-55518877-A-G MMP2 c.380-334A>G - IntronicSNV - 3/12
4-142565693-T-C IL15 c.-624+7792T>C - intron_variant - 1/9
15-51606710-A-G CYP19A1 c.-39+23982T>C - intron_variant - 1/9
8-18068682-T-A NAT1 c.-86+993T>A - intron_variant - 1/2
1-169526601-G-A F5 c.731-496C>T - IntronicSNV - 5/24
9-132514889-C-T PTGES c.126+277G>A - IntronicSNV - 1/2
7-94949329-A-G PON1 c.75-1624T>C - IntronicSNV - 1/8
7-94056099-A-G COL1A2 c.3106-221A>G - IntronicSNV - 46/51
3-190324570-G-T IL1RAP c.351-2214G>T - IntronicSNV - 3/10
7-94029982-C-G COL1A2 c.225+382C>G - IntronicSNV - 5/51
7-94927677-A-C PON1 c.*579T>G - 3-UTRSNV 9/9 -
10-54528266-G-C MBL2 c.378C>G p.Leu126Leu Synonymous 4/4 -
22-37539713-T-C IL2RB c.89-38A>G - IntronicSNV - 2/9
16-50741462-A-C NOD2 c.541-304A>C - IntronicSNV - 2/11
16-55536763-C-G MMP2 c.1692C>G p.Pro564Pro Synonymous 12/13 -
16-55536763-C-T MMP2 c.1692C>T p.Pro564Pro Synonymous 12/13 -
1-12233754-T-C TNFRSF1B c.78+6528T>C - IntronicSNV - 1/9
2-102773003-A-G IL1R1 c.1-1182A>G - IntronicSNV - 1/11
15-51613906-C-G CYP19A1 c.-39+16786G>C - intron_variant - 1/9
1-79002544-C-T PTGFR c.*172C>T - 3-UTRSNV 3/3 -
7-94060509-G-T COL1A2 c.*804G>T - 3-UTRSNV 52/52 -
14-64920665-G-A MTHFD1 c.2565+86G>A - IntronicSNV - 25/27
1-12246175-C-T TNFRSF1B c.79-2678C>T - IntronicSNV - 1/9
11-100931117-C-T PGR c.2212+2061G>A - IntronicSNV - 4/7
5-7866106-A-T FASTKD3 c.1439-10T>A - IntronicSNV - 2/6
1-11850365-T-G MTHFR c.*372A>C - 3-UTRSNV 12/12 -
14-81591754-T-A TSHR c.693-14269T>A - IntronicSNV - 8/9
5-7876288-T-G MTRR c.401+800T>G - IntronicSNV - 4/14
11-100988034-C-T PGR c.1789+8704G>A - IntronicSNV - 2/7
11-100961182-G-T PGR c.1906+1309C>A - IntronicSNV - 3/7
14-81497393-T-C TSHR c.171-31099T>C - IntronicSNV - 1/9
7-30707302-G-A CRHR2 c.311-373C>T - IntronicSNV - 3/12
10-6057732-G-T IL2RA c.794+2284C>A - IntronicSNV - 7/7
9-137718196-T-G COL5A1 c.5067+446T>G - IntronicSNV - 63/65
10-6082953-G-T IL2RA c.65-14965C>A - IntronicSNV - 1/7
12-6433289-C-T PLEKHG6 c.1525-2305C>T - IntronicSNV - 13/15
16-55517162-A-G MMP2 c.230+115A>G - IntronicSNV - 2/12
1-186898065-C-T PLA2G4A c.559-3830C>T - IntronicSNV - 7/17
14-81592190-A-G TSHR c.693-13833A>G - IntronicSNV - 8/9
1-169529826-C-T F5 c.552G>A p.Ser184Ser Synonymous 4/25 -
1-169529826-C-A F5 c.552G>T p.Ser184Ser Synonymous 4/25 -
1-169529826-C-G F5 c.552G>C p.Ser184Ser Synonymous 4/25 -
5-142780697-C-T NR3C1 c.1-293G>A - IntronicSNV - 1/8
15-51536141-T-G CYP19A1 c.1-1032A>C - IntronicSNV - 1/9
2-189936687-T-G COL5A2 c.1158+79A>C - IntronicSNV - 18/53
7-30694961-C-T CRHR2 c.1134+235G>A - IntronicSNV - 11/12
12-68550815-T-C IFNG c.366+878A>G - IntronicSNV - 3/3
7-30698904-G-C CRHR2 c.912+1285C>G - IntronicSNV - 9/12
7-30698904-G-A CRHR2 c.912+1285C>T - IntronicSNV - 9/12
3-190304172-G-T IL1RAP c.65-17745G>T - IntronicSNV - 2/10
3-190304172-G-A IL1RAP c.65-17745G>A - IntronicSNV - 2/10
19-44156472-T-C PLAUR c.659A>G p.Lys220Arg Missense 6/7 -
3-190252635-G-T IL1RAP c.-2+20627G>T - intron_variant - 1/10
1-11862214-T-C MTHFR c.236+724A>G - IntronicSNV - 2/11
1-154404380-C-G IL6R c.458+1298C>G - IntronicSNV - 3/9
7-100775686-G-A SERPINE1 c.700+336G>A - IntronicSNV - 4/8
1-11850365-T-A MTHFR c.*372A>T - 3-UTRSNV 12/12 -
21-44491425-C-T CBS c.209+670G>A - IntronicSNV - 3/16
14-52788472-A-T PTGER2 c.844-5467A>T - IntronicSNV - 1/1
10-6067969-C-T IL2RA c.84G>A p.Pro28Pro Synonymous 2/8 -
4-142652130-A-C IL15 c.297+993A>C - IntronicSNV - 9/9
3-190262799-G-A IL1RAP c.1-19280G>A - IntronicSNV - 1/10
5-76263993-A-T CRHBP c.812-560A>T - IntronicSNV - 6/6
14-64903448-T-C MTHFD1 c.1597+1059T>C - IntronicSNV - 16/27
2-113889631-G-A IL1RN c.328-602G>A - IntronicSNV - 5/5
14-81515885-C-T TSHR c.171-12607C>T - IntronicSNV - 1/9
22-37530332-A-G IL2RB c.818+1036T>C - IntronicSNV - 8/9
15-51529112-T-C CYP19A1 c.240A>G p.Val80Val Synonymous 3/10 -
14-81592717-A-G TSHR c.693-13306A>G - IntronicSNV - 8/9
21-44473867-G-C CBS c.*123C>G - 3-UTRSNV 17/17 -
2-189866199-T-A COL3A1 c.2337+23T>A - IntronicSNV - 33/50
21-34669381-G-A IL10RB c.*719G>A - 3-UTRSNV 7/7 -
15-51613906-C-T CYP19A1 c.-39+16786G>A - intron_variant - 1/9
2-234672722-T-G UGT1A1 c.864+2925T>G - IntronicSNV - 1/4
2-234672722-T-A UGT1A1 c.864+2925T>A - IntronicSNV - 1/4
9-120478032-C-T TLR4 c.*1106C>T - 3-UTRSNV 3/3 -
9-137672012-C-T COL5A1 c.2430+20C>T - IntronicSNV - 28/65
9-132507910-T-C PTGES c.209+3024A>G - IntronicSNV - 2/2
14-81459186-G-A TSHR c.170+36992G>A - IntronicSNV - 1/9
11-117863846-C-T IL10RA c.368-110C>T - IntronicSNV - 3/6
19-39390931-C-G NFKBIB c.179+80C>G - IntronicSNV - 1/5
3-190262052-G-A IL1RAP c.1-20027G>A - IntronicSNV - 1/10
8-27364787-T-C EPHX2 c.660+276T>C - IntronicSNV - 5/18
1-11852300-C-T MTHFR c.1632+35G>A - IntronicSNV - 10/11
16-27373467-A-C IL4R c.900-106A>C - IntronicSNV - 10/10
7-94047266-C-A COL1A2 c.1971+123C>A - IntronicSNV - 32/51
13-33609282-A-G KL c.819+17885A>G - IntronicSNV - 1/4
7-94936692-C-T PON1 c.698+631G>A - IntronicSNV - 6/8
19-39396649-C-T NFKBIB c.619+474C>T - IntronicSNV - 3/5
5-76012913-C-T F2R c.88+693C>T - IntronicSNV - 1/1
2-102783355-G-T IL1R1 c.655+614G>T - IntronicSNV - 6/11
15-51519276-T-G CYP19A1 c.451+700A>C - IntronicSNV - 4/9
1-186951429-A-G PLA2G4A c.2118+2825A>G - IntronicSNV - 17/17
4-103527068-G-A NFKB1 c.1753-585G>A - IntronicSNV - 16/23
5-7887109-A-G MTRR c.1146+293A>G - IntronicSNV - 8/14
3-190257179-A-G IL1RAP c.1-24900A>G - IntronicSNV - 1/10
17-18250527-C-T SHMT1 c.519+283G>A - IntronicSNV - 5/11
2-102630273-G-A IL1R2 c.333-2060G>A - IntronicSNV - 3/8
11-102585696-A-G MMP8 c.1037-256T>C - IntronicSNV - 7/9
15-51572260-G-T CYP19A1 c.1-37151C>A - IntronicSNV - 1/9
7-30713608-A-G CRHR2 c.311-6679T>C - IntronicSNV - 3/12
5-132403433-A-G HSPA4 c.306+184A>G - IntronicSNV - 3/18
5-76129303-A-T F2RL1 c.871A>T p.Thr291Ser Missense 2/2 -
5-76129303-A-G F2RL1 c.871A>G p.Thr291Ala Missense 2/2 -
6-31778272-G-A HSPA1L c.1478C>T p.Thr493Met Missense 2/2 -
14-81424118-T-G TSHR c.170+1924T>G - IntronicSNV - 1/9
2-113886350-A-G IL1RN c.126-803A>G - IntronicSNV - 3/5
6-41246473-T-C TREM1 c.599+2226A>G - IntronicSNV - 3/3
17-28543389-C-T SLC6A4 c.838-155G>A - IntronicSNV - 6/14
17-28543389-C-G SLC6A4 c.838-155G>C - IntronicSNV - 6/14
14-81480897-A-C TSHR c.171-47595A>C - IntronicSNV - 1/9
21-44480115-G-T CBS c.1145+436C>A - IntronicSNV - 12/16
8-18073182-T-C NAT1 c.-85-3738T>C - intron_variant - 1/2
16-55536687-A-G MMP2 c.1620-4A>G - IntronicSNV - 11/12
17-28551121-C-T SLC6A4 c.1-2145G>A - IntronicSNV - 1/14
9-125137695-A-T PTGS1 c.95-2483A>T - IntronicSNV - 2/10
1-11854671-C-A MTHFR c.1167-76G>T - IntronicSNV - 7/11
2-204734487-C-T CTLA4 c.110-822C>T - IntronicSNV - 1/3
5-79952034-A-G MSH3 c.238-196A>G - IntronicSNV - 1/23
10-6084025-G-A IL2RA c.65-16037C>T - IntronicSNV - 1/7
2-113877495-G-T IL1RN c.11-148G>T - IntronicSNV - 1/5
7-22768707-T-G IL6 c.324+282T>G - IntronicSNV - 3/4
7-22768707-T-A IL6 c.324+282T>A - IntronicSNV - 3/4
16-27359021-A-C IL4R c.513+1082A>C - IntronicSNV - 6/10
11-100905297-G-A PGR c.*4550C>T - 3-UTRSNV 8/8 -
11-100905297-G-C PGR c.*4550C>G - 3-UTRSNV 8/8 -
10-14887979-C-A HSPA14 c.222-2629C>A - IntronicSNV - 3/13
21-34666492-C-T IL10RB c.805-1997C>T - IntronicSNV - 6/6
5-7897191-C-T MTRR c.1783C>T p.His595Tyr Missense 14/15 -
1-169486128-G-A F5 c.6346-1264C>T - IntronicSNV - 23/24
1-186870263-G-T PLA2G4A c.379-5834G>T - IntronicSNV - 5/17
10-90771829-T-C FAS c.642T>C p.Thr214Thr Synonymous 7/9 -
14-81599511-C-A TSHR c.693-6512C>A - IntronicSNV - 8/9
11-100961827-C-G PGR c.1906+664G>C - IntronicSNV - 3/7
10-14887979-C-T HSPA14 c.222-2629C>T - IntronicSNV - 3/13
14-81523128-T-C TSHR c.171-5364T>C - IntronicSNV - 1/9
1-169526601-G-C F5 c.731-496C>G - IntronicSNV - 5/24
17-28550888-C-G SLC6A4 c.-220-955G>C - intron_variant - 1/14
17-28550888-C-T SLC6A4 c.-220-955G>A - intron_variant - 1/14
4-129208259-G-T PGRMC2 c.418+269C>A - intron_variant - 1/2
16-55517232-G-C MMP2 c.230+185G>C - IntronicSNV - 2/12
9-132501881-A-C PTGES c.*9T>G - 3-UTRSNV 3/3 -
16-55517232-G-A MMP2 c.230+185G>A - IntronicSNV - 2/12
5-7876288-T-C MTRR c.401+800T>C - IntronicSNV - 4/14
7-150689397-A-G NOS3 c.-52+1009A>G - intron_variant - 1/26
3-190261666-G-T IL1RAP c.1-20413G>T - IntronicSNV - 1/10
5-7878179-C-T MTRR c.524C>T p.Ser175Leu Missense 5/15 -
1-172633350-A-G FASLG c.395-124A>G - IntronicSNV - 2/3
1-186850960-T-C PLA2G4A c.116-11183T>C - IntronicSNV - 3/17
2-189936687-T-A COL5A2 c.1158+79A>T - IntronicSNV - 18/53
X-12903659-A-C TLR7 c.32A>C p.Gln11Pro Missense 3/3 -
X-12903659-A-T TLR7 c.32A>T p.Gln11Leu Missense 3/3 -
2-102613013-C-G IL1R2 c.-62+4540C>G - intron_variant - 1/8
15-51614124-C-A CYP19A1 c.-39+16568G>T - intron_variant - 1/9
22-37539128-C-T IL2RB c.203+433G>A - IntronicSNV - 3/9
2-102783355-G-A IL1R1 c.655+614G>A - IntronicSNV - 6/11
1-186856248-T-C PLA2G4A c.116-5895T>C - IntronicSNV - 3/17
15-51614124-C-G CYP19A1 c.-39+16568G>C - intron_variant - 1/9
1-226013355-C-T EPHX1 c.-6+110C>T - intron_variant - 1/8
1-78980521-G-A PTGFR c.798+21295G>A - IntronicSNV - 2/2
1-12264355-A-G TNFRSF1B c.1105+2127A>G - IntronicSNV - 9/9
22-37529724-G-A IL2RB c.819-1216C>T - IntronicSNV - 8/9
8-27381194-G-T EPHX2 c.1058+1169G>T - IntronicSNV - 11/18
5-76117117-C-G F2RL1 c.82+2028C>G - IntronicSNV - 1/1
16-27365468-A-G IL4R c.670+1451A>G - IntronicSNV - 7/10
4-103536901-G-A NFKB1 c.2750-690G>A - IntronicSNV - 23/23
14-64884106-T-C MTHFD1 c.479-500T>C - IntronicSNV - 6/27
2-190013146-G-A COL5A2 c.97+31088C>T - IntronicSNV - 1/53
11-62186542-G-A SCGB1A1 c.1-26G>A - 5-UTRSNV 1/3 -
6-31783507-G-A HSPA1A c.1-27G>A - 5-UTRSNV 1/1 -
15-51599205-C-G CYP19A1 c.-39+31487G>C - intron_variant - 1/9
19-17007026-T-C CPAMD8 c.5528A>G p.Glu1843Gly Missense 42/42 -
14-81610583-G-C TSHR c.2181G>C p.Glu727Asp Missense 10/10 -
2-188356110-A-G TFPI c.320-3008T>C - IntronicSNV - 3/7
11-117869670-A-G IL10RA c.1051A>G p.Arg351Gly Missense 7/7 -
3-12189968-A-G SYN2 c.684+2633A>G - intron_variant - 5/13
17-48262775-A-G COL1A1 c.*88T>C - 3-UTRSNV 51/51 -
17-61573761-T-G ACE c.3387T>G p.Phe1129Leu Missense 23/25 -
7-94927677-A-G PON1 c.*579T>C - 3-UTRSNV 9/9 -
4-100226324-C-A ADH1B c.*2673G>T - IntergenicSNV 9/9 -
17-2563261-T-A PAFAH1B1 c.33-5405T>A - IntronicSNV - 2/10
2-204733588-T-C CTLA4 c.109+814T>C - IntronicSNV - 1/3
1-78997461-G-C PTGFR c.799-4630G>C - IntronicSNV - 2/2
1-78997461-G-A PTGFR c.799-4630G>A - IntronicSNV - 2/2
21-44478497-C-T CBS c.1359-134G>A - IntronicSNV - 14/16
1-209894043-T-A HSD11B1 c.518-11738T>A - IntronicSNV - 4/5
10-6060433-C-T IL2RA c.728-351G>A - IntronicSNV - 6/7
11-100934314-G-C PGR c.1907-831C>G - IntronicSNV - 3/7
11-102660959-A-G MMP1 c.*184T>C - 3-UTRSNV 10/10 -
22-33253280-T-A TIMP3 c.249T>A p.His83Gln Missense 3/5 -
22-33253280-T-C TIMP3 c.249T>C p.His83His Synonymous 3/5 -
3-190240744-A-G IL1RAP c.-2+8736A>G - intron_variant - 1/10
1-209905734-G-C HSD11B1 c.518-47G>C - IntronicSNV - 4/5
17-61560763-T-C ACE c.1488-58T>C - IntronicSNV - 9/24
3-190280052-G-A IL1RAP c.1-2027G>A - IntronicSNV - 1/10
10-6057732-G-A IL2RA c.794+2284C>T - IntronicSNV - 7/7
9-137704058-T-A COL5A1 c.3691-237T>A - IntronicSNV - 46/65
7-94046468-A-G COL1A2 c.1864-568A>G - IntronicSNV - 31/51
10-6066568-G-A IL2RA c.257-251C>T - IntronicSNV - 2/7
13-113792893-C-A F10 c.256+98C>A - IntronicSNV - 3/7
9-137702813-A-C COL5A1 c.3529-372A>C - IntronicSNV - 44/65
13-113770876-G-A F7 c.572-204G>A - IntronicSNV - 6/8
7-95060313-A-G PON2 c.74+3877T>C - IntronicSNV - 1/8
2-189848384-T-A COL3A1 c.80-1102T>A - IntronicSNV - 1/50
6-41246633-A-G TREM1 c.599+2066T>C - IntronicSNV - 3/3
11-46744925-G-C F2 c.423-7G>C - IntronicSNV - 5/13
11-46744925-G-A F2 c.423-7G>A - IntronicSNV - 5/13
8-42055146-C-G PLAT c.1-4443G>C - IntronicSNV - 1/13
1-12267265-A-G TNFRSF1B c.*188A>G - 3-UTRSNV 10/10 -
1-11856847-G-A MTHFR c.587-391C>T - IntronicSNV - 4/11
14-81610942-C-T TSHR c.*245C>T - 3-UTRSNV 10/10 -
22-33224285-C-T TIMP3 c.122-21154C>T - IntronicSNV - 1/4
19-17003789-T-G CPAMD8 c.*130A>C - 3-UTRSNV 42/42 -
4-100228466-T-C ADH1B c.*531A>G - 3-UTRSNV 9/9 -
4-100228945-T-C ADH1B c.*52A>G - 3-UTRSNV 9/9 -
16-27350687-A-G IL4R c.1-838A>G - IntronicSNV - 2/10
8-18077310-T-C NAT1 c.-7+312T>C - intron_variant - 2/2
16-27352819-G-A IL4R c.71-623G>A - IntronicSNV - 3/10
7-94058395-T-C COL1A2 c.3712-105T>C - IntronicSNV - 50/51
5-142726170-C-T NR3C1 c.1185-32437G>A - IntronicSNV - 2/8
6-41243991-C-T TREM1 c.600-23G>A - IntronicSNV - 3/3
7-94059317-G-A COL1A2 c.3955-242G>A - IntronicSNV - 51/51
6-42884750-A-C PTCRA c.58+885A>C - IntronicSNV - 1/3
1-162770647-A-G HSD17B7 c.642+920A>G - IntronicSNV - 5/8
9-125138695-A-C PTGS1 c.95-1483A>C - IntronicSNV - 2/10
9-125138695-A-G PTGS1 c.95-1483A>G - IntronicSNV - 2/10
5-76250972-T-C CRHBP c.334-506T>C - IntronicSNV - 3/6
8-27388199-G-A EPHX2 c.1170+5209G>A - IntronicSNV - 12/18
15-51579598-C-T CYP19A1 c.1-44489G>A - IntronicSNV - 1/9
5-76130113-T-A F2RL1 c.*487T>A - 3-UTRSNV 2/2 -
1-169508576-A-C F5 c.4796+956T>G - IntronicSNV - 13/24
2-189860630-A-C COL3A1 c.1608+114A>C - IntronicSNV - 22/50
11-100966638-T-A PGR c.1790-4031A>T - IntronicSNV - 2/7
1-236972186-A-G MTR c.409+113A>G - IntronicSNV - 4/32
14-81484599-T-C TSHR c.171-43893T>C - IntronicSNV - 1/9
3-190359456-G-A IL1RAP c.1052-2581G>A - IntronicSNV - 8/10
3-190280165-T-G IL1RAP c.1-1914T>G - IntronicSNV - 1/10
3-190280165-T-A IL1RAP c.1-1914T>A - IntronicSNV - 1/10
3-190287209-T-A IL1RAP c.64+5067T>A - IntronicSNV - 2/10
2-188391250-C-T TFPI c.1-22755G>A - IntronicSNV - 1/7
10-90766213-T-C FAS c.197-1244T>C - IntronicSNV - 2/8
5-76019044-C-T F2R c.88+6824C>T - IntronicSNV - 1/1
5-142767160-T-C NR3C1 c.1184+12061A>G - IntronicSNV - 2/8
15-51518769-C-T CYP19A1 c.451+1207G>A - IntronicSNV - 4/9
3-190346658-T-A IL1RAP c.903-481T>A - IntronicSNV - 7/10
10-6087794-G-A IL2RA c.64+16257C>T - IntronicSNV - 1/7
2-204733588-T-A CTLA4 c.109+814T>A - IntronicSNV - 1/3
7-94950177-C-T PON1 c.75-2472G>A - IntronicSNV - 1/8
7-94950177-C-G PON1 c.75-2472G>C - IntronicSNV - 1/8
7-94930391-A-C PON1 c.909+1126T>G - IntronicSNV - 8/8
X-12906030-G-A TLR7 c.2403G>A p.Thr801Thr Synonymous 3/3 -
14-81432546-A-G TSHR c.170+10352A>G - IntronicSNV - 1/9
1-12241991-G-A TNFRSF1B c.79-6862G>A - IntronicSNV - 1/9
14-52792500-A-G PTGER2 c.844-1439A>G - IntronicSNV - 1/1
19-17008578-G-C CPAMD8 c.4989C>G - synonymous_variant 39/42 -
10-90761865-T-A FAS c.31-921T>A - IntronicSNV - 1/8
15-51625078-C-T CYP19A1 c.-39+5614G>A - intron_variant - 1/9
8-27402132-T-C EPHX2 c.*93T>C - 3-UTRSNV 19/19 -
7-94048482-G-A COL1A2 c.2026-328G>A - IntronicSNV - 33/51
1-162766476-C-T HSD17B7 c.332+9C>T - IntronicSNV - 3/8
22-37535471-C-T IL2RB c.283-209G>A - IntronicSNV - 4/9
17-48265426-A-G COL1A1 c.3261+31T>C - IntronicSNV - 44/50
2-102639209-A-G IL1R2 c.751+498A>G - IntronicSNV - 6/8
16-27373558-C-A IL4R c.900-15C>A - IntronicSNV - 10/10
9-137698504-C-T COL5A1 c.3366+362C>T - IntronicSNV - 42/65
1-169481950-G-A F5 c.*1601C>T - 3-UTRSNV 25/25 -
2-188410351-G-A TFPI c.-3+8576C>T - intron_variant - 1/7
10-6100725-G-A IL2RA c.64+3326C>T - IntronicSNV - 1/7
6-31778272-G-T HSPA1L c.1478C>A p.Thr493Lys Missense 2/2 -
3-12200906-C-T SYN2 c.775-2140C>T - intron_variant - 6/13
1-186915177-A-T PLA2G4A c.1034-592A>T - IntronicSNV - 10/17
1-186915177-A-G PLA2G4A c.1034-592A>G - IntronicSNV - 10/17
X-12901960-G-T TLR7 c.4-1671G>T - IntronicSNV - 2/2
9-125147920-G-T PTGS1 c.1010-805G>T - IntronicSNV - 8/10
3-190341439-G-A IL1RAP c.775+235G>A - IntronicSNV - 6/10
7-95049073-A-G PON2 c.146-3464T>C - IntronicSNV - 2/8
17-2583976-G-T PAFAH1B1 c.1159+362G>T - IntronicSNV - 10/10
14-81443368-T-C TSHR c.170+21174T>C - IntronicSNV - 1/9
21-44483248-G-A CBS c.829-60C>T - IntronicSNV - 9/16
7-94051450-T-C COL1A2 c.2403+186T>C - IntronicSNV - 39/51
3-190361015-T-G IL1RAP c.1052-1022T>G - IntronicSNV - 8/10
3-190294208-G-C IL1RAP c.64+12066G>C - IntronicSNV - 2/10
10-54529480-G-A MBL2 c.305-405C>T - IntronicSNV - 2/3
1-78990275-C-G PTGFR c.799-11816C>G - IntronicSNV - 2/2
16-50751175-T-G NOD2 c.2630+290T>G - IntronicSNV - 6/11
15-51622128-G-T CYP19A1 c.-39+8564C>A - intron_variant - 1/9
11-46744925-G-T F2 c.423-7G>T - IntronicSNV - 5/13
10-75674549-G-A PLAU c.845G>A p.Arg282His Missense 9/11 -
10-75674549-G-T PLAU c.845G>T p.Arg282Leu Missense 9/11 -
2-102788125-G-A IL1R1 c.722-136G>A - IntronicSNV - 7/11
19-39396335-A-T NFKBIB c.619+160A>T - IntronicSNV - 3/5
1-11854755-G-A MTHFR c.1166+31C>T - IntronicSNV - 7/11
13-33630055-C-T KL c.1599+603C>T - IntronicSNV - 3/4
22-33192544-C-T SYN3 c.708+68358G>A - IntronicSNV - 6/13
9-125145619-G-A PTGS1 c.763-169G>A - IntronicSNV - 7/10
14-81594380-C-T TSHR c.693-11643C>T - IntronicSNV - 8/9
9-137718196-T-C COL5A1 c.5067+446T>C - IntronicSNV - 63/65
2-188398080-G-C TFPI c.-3+20847C>G - intron_variant - 1/7
1-226032229-C-T EPHX1 c.1071C>T p.Asn357Asn Synonymous 8/9 -
6-42892834-G-T PTCRA c.425-165G>T - IntronicSNV - 3/3
8-27367839-G-T EPHX2 c.661-1514G>T - IntronicSNV - 5/18
22-33213319-A-G TIMP3 c.121+15211A>G - IntronicSNV - 1/4
6-43751075-A-G VEGFA c.1218-1203A>G - IntronicSNV - 7/7
22-33229830-A-G TIMP3 c.122-15609A>G - IntronicSNV - 1/4
10-6053163-T-A IL2RA c.*1672A>T - 3-UTRSNV 8/8 -
1-169522554-G-T F5 c.1119-582C>A - IntronicSNV - 7/24
6-161152240-G-A PLG c.1414G>A p.Asp472Asn Missense 11/19 -
14-81470655-C-A TSHR c.170+48461C>A - IntronicSNV - 1/9
14-81470655-C-G TSHR c.170+48461C>G - IntronicSNV - 1/9
17-48263903-A-G COL1A1 c.3815-35T>C - IntronicSNV - 48/50
10-90767395-G-C FAS c.197-62G>C - IntronicSNV - 2/8
9-137717869-C-T COL5A1 c.5067+119C>T - IntronicSNV - 63/65
15-51609714-A-G CYP19A1 c.-39+20978T>C - intron_variant - 1/9
7-95039445-C-T PON2 c.495-32G>A - IntronicSNV - 5/8
19-44169738-G-A PLAUR c.167-127C>T - IntronicSNV - 2/6
7-95039445-C-A PON2 c.495-32G>T - IntronicSNV - 5/8
17-43910455-G-A CRHR1 c.858-49G>A - IntronicSNV - 9/13
19-44169738-G-C PLAUR c.167-127C>G - IntronicSNV - 2/6
6-161153990-G-A PLG c.1588-1037G>A - IntronicSNV - 12/18
7-94040133-T-A COL1A2 c.1198-68T>A - IntronicSNV - 21/51
6-43742579-T-G VEGFA c.658+450T>G - IntronicSNV - 2/7
6-43742579-T-C VEGFA c.658+450T>C - IntronicSNV - 2/7
14-64918412-A-G MTHFD1 c.2458-2060A>G - IntronicSNV - 24/27
14-81574429-G-A TSHR c.615-290G>A - IntronicSNV - 7/9
7-94040999-T-C COL1A2 c.1351-381T>C - IntronicSNV - 23/51
9-137678306-G-T COL5A1 c.2646+412G>T - IntronicSNV - 31/65
17-28538532-C-T SLC6A4 c.1205-90G>A - IntronicSNV - 9/14
15-51544359-C-T CYP19A1 c.1-9250G>A - IntronicSNV - 1/9
4-123373133-T-A IL2 c.352-116A>T - IntronicSNV - 3/3
4-123373133-T-C IL2 c.352-116A>G - IntronicSNV - 3/3
14-81471446-A-G TSHR c.170+49252A>G - IntronicSNV - 1/9
17-43912582-C-T CRHR1 c.*452C>T - 3-UTRSNV 14/14 -
1-186917520-C-A PLA2G4A c.1264+1427C>A - IntronicSNV - 12/17
15-51611654-A-T CYP19A1 c.-39+19038T>A - intron_variant - 1/9
14-81455409-T-C TSHR c.170+33215T>C - IntronicSNV - 1/9
11-102593248-T-C MMP8 c.259A>G p.Lys87Glu Missense 2/10 -
1-95005220-G-A F3 c.212+593C>T - IntronicSNV - 2/5
11-100910995-T-C PGR c.2647-993A>G - IntronicSNV - 7/7
3-190257624-T-A IL1RAP c.1-24455T>A - IntronicSNV - 1/10
19-44170586-A-T PLAUR c.167-975T>A - IntronicSNV - 2/6
1-169538544-C-A F5 c.373+2915G>T - IntronicSNV - 3/24
9-125140206-G-A PTGS1 c.123G>A p.Gln41Gln Synonymous 3/11 -
1-154432042-G-C IL6R c.1160+4985G>C - IntronicSNV - 9/9
X-12889763-T-G TLR7 c.3+4063T>G - IntronicSNV - 2/2
15-51548705-G-T CYP19A1 c.1-13596C>A - IntronicSNV - 1/9
3-12192440-T-A SYN2 c.685-297T>A - intron_variant - 5/13
11-100961827-C-T PGR c.1906+664G>A - IntronicSNV - 3/7
5-7877178-A-G MTRR c.402-879A>G - IntronicSNV - 4/14
3-12192440-T-G SYN2 c.685-297T>G - intron_variant - 5/13
1-12262298-G-A TNFRSF1B c.1105+70G>A - IntronicSNV - 9/9
1-78957550-G-A PTGFR c.-73+629G>A - intron_variant - 1/2
22-33259625-T-C SYN3 c.708+1277A>G - IntronicSNV - 6/13
6-31783507-G-T HSPA1A c.1-27G>T - 5-UTRSNV 1/1 -
8-42056049-C-G PLAT c.1-5346G>C - IntronicSNV - 1/13
10-6098949-C-T IL2RA c.64+5102G>A - IntronicSNV - 1/7
3-190265429-G-A IL1RAP c.1-16650G>A - IntronicSNV - 1/10
3-190303805-A-G IL1RAP c.65-18112A>G - IntronicSNV - 2/10
11-112016514-G-A IL18 c.361-1974C>T - IntronicSNV - 5/5
10-6085312-G-A IL2RA c.65-17324C>T - IntronicSNV - 1/7
9-137704058-T-C COL5A1 c.3691-237T>C - IntronicSNV - 46/65
9-120474199-T-G TLR4 c.261-468T>G - IntronicSNV - 2/2
1-186933555-A-G PLA2G4A c.1580-986A>G - IntronicSNV - 14/17
15-51549044-G-A CYP19A1 c.1-13935C>T - IntronicSNV - 1/9
4-142637305-A-T IL15 c.-287-3226A>T - intron_variant - 3/9
8-42057370-G-T PLAT c.1-6667C>A - IntronicSNV - 1/13
14-81481332-A-C TSHR c.171-47160A>C - IntronicSNV - 1/9
15-51549044-G-T CYP19A1 c.1-13935C>A - IntronicSNV - 1/9
13-33598987-A-G KL c.819+7590A>G - IntronicSNV - 1/4
2-234676413-T-C UGT1A1 c.997-82T>C - IntronicSNV - 2/4
13-33598987-A-C KL c.819+7590A>C - IntronicSNV - 1/4
3-190347523-G-C IL1RAP c.1051+236G>C - IntronicSNV - 8/10
14-81441353-A-G TSHR c.170+19159A>G - IntronicSNV - 1/9
3-190347523-G-A IL1RAP c.1051+236G>A - IntronicSNV - 8/10
5-132013299-C-G IL4 c.184-2107C>G - IntronicSNV - 2/3
5-132013299-C-A IL4 c.184-2107C>A - IntronicSNV - 2/3
5-132013299-C-T IL4 c.184-2107C>T - IntronicSNV - 2/3
3-190327752-C-A IL1RAP c.537+782C>A - IntronicSNV - 4/10
7-94043239-C-A COL1A2 c.1645C>A p.Pro549Thr Missense 28/52 -
7-94043239-C-G COL1A2 c.1645C>G p.Pro549Ala Missense 28/52 -
8-18077987-A-G NAT1 c.-7+989A>G - intron_variant - 2/2
1-154410955-C-T IL6R c.949+2369C>T - IntronicSNV - 6/9
1-154410955-C-A IL6R c.949+2369C>A - IntronicSNV - 6/9
7-94050608-T-G COL1A2 c.2349+234T>G - IntronicSNV - 38/51
6-44232074-A-G NFKBIE c.365+645T>C - intron_variant - 1/5
7-150689397-A-C NOS3 c.-52+1009A>C - intron_variant - 1/26
2-189949189-T-C COL5A2 c.799-426A>G - IntronicSNV - 11/53
10-6079846-G-A IL2RA c.65-11858C>T - IntronicSNV - 1/7
7-94057418-A-C COL1A2 c.3527-187A>C - IntronicSNV - 49/51
2-189849330-A-G COL3A1 c.80-156A>G - IntronicSNV - 1/50
4-142651265-T-C IL15 c.297+128T>C - IntronicSNV - 9/9
1-154400320-A-G IL6R c.86-1352A>G - IntronicSNV - 1/9
2-189949189-T-A COL5A2 c.799-426A>T - IntronicSNV - 11/53
10-14908241-A-T HSPA14 c.994-841A>T - IntronicSNV - 10/13
13-33612839-G-T KL c.820-15065G>T - IntronicSNV - 1/4
14-64882380-A-G MTHFD1 c.401A>G p.Lys134Arg Missense 6/28 -
10-6090322-A-T IL2RA c.64+13729T>A - IntronicSNV - 1/7
1-154400015-G-T IL6R c.86-1657G>T - IntronicSNV - 1/9
1-186823284-G-A PLA2G4A c.1-203G>A - IntronicSNV - 1/17
3-190287285-T-A IL1RAP c.64+5143T>A - IntronicSNV - 2/10
17-28546914-C-T SLC6A4 c.344-965G>A - IntronicSNV - 3/14
3-190287285-T-G IL1RAP c.64+5143T>G - IntronicSNV - 2/10
17-28531793-C-T SLC6A4 c.1651-1436G>A - IntronicSNV - 13/14
5-132013963-A-C IL4 c.184-1443A>C - IntronicSNV - 2/3
22-37533786-C-G IL2RB c.389-11G>C - IntronicSNV - 5/9
4-129198402-C-T PGRMC2 c.419-4730G>A - intron_variant - 1/2
2-102769786-C-T IL1R1 c.-83-615C>T - intron_variant - 1/11
19-44172025-C-T PLAUR c.56-182G>A - IntronicSNV - 1/6
9-137703923-A-G COL5A1 c.3691-372A>G - IntronicSNV - 46/65
14-81578702-C-T TSHR c.692+3906C>T - IntronicSNV - 8/9
8-67085267-C-T TRIM55 c.1525-1439C>T - IntronicSNV - 9/9
5-79936318-G-T DHFR c.243-2490C>A - IntronicSNV - 3/5
5-79936318-G-A DHFR c.243-2490C>T - IntronicSNV - 3/5
4-100239112-A-C ADH1B c.259+91T>G - IntronicSNV - 3/8
X-12901562-G-A TLR7 c.4-2069G>A - IntronicSNV - 2/2
10-104157711-T-C NFKB2 c.662-27T>C - IntronicSNV - 8/22
6-161160644-G-T PLG c.2018+404G>T - IntronicSNV - 16/18
6-161160644-G-A PLG c.2018+404G>A - IntronicSNV - 16/18
10-104157711-T-G NFKB2 c.662-27T>G - IntronicSNV - 8/22
13-33613132-G-A KL c.820-14772G>A - IntronicSNV - 1/4
5-138705588-A-T SLC23A1 c.*2107T>A - IntronicSNV - 14/14
15-51569410-A-T CYP19A1 c.1-34301T>A - IntronicSNV - 1/9
2-113876779-G-A IL1RN c.11-864G>A - IntronicSNV - 1/5
5-138705588-A-C SLC23A1 c.*2107T>G - IntronicSNV - 14/14
5-138705588-A-G SLC23A1 c.*2107T>C - IntronicSNV - 14/14
12-6447437-C-T TNFRSF1A c.39+3505G>A - IntronicSNV - 1/9
19-39396557-A-C NFKBIB c.619+382A>C - IntronicSNV - 3/5
9-137726429-A-T COL5A1 c.5137-388A>T - IntronicSNV - 64/65
9-137726429-A-G COL5A1 c.5137-388A>G - IntronicSNV - 64/65
8-18074322-A-T NAT1 c.-85-2598A>T - intron_variant - 1/2
9-137701802-A-G COL5A1 c.3475-299A>G - IntronicSNV - 43/65
7-95034821-A-G PON2 c.907-21T>C - IntronicSNV - 8/8
9-137733714-T-C COL5A1 c.5371-289T>C - IntronicSNV - 65/65
3-190279866-G-A IL1RAP c.1-2213G>A - IntronicSNV - 1/10
10-90761865-T-C FAS c.31-921T>C - IntronicSNV - 1/8
8-27396208-G-A EPHX2 c.1275G>A p.Ala425Ala Synonymous 14/19 -
10-6053374-A-G IL2RA c.*1461T>C - 3-UTRSNV 8/8 -
11-102593248-T-G MMP8 c.259A>C p.Lys87Gln Missense 2/10 -
19-17003405-C-T F2RL3 c.*1973C>T - IntergenicSNV 2/2 -
2-189981212-G-T COL5A2 c.98-6037C>A - IntronicSNV - 1/53
7-94949928-C-T PON1 c.75-2223G>A - IntronicSNV - 1/8
3-190273818-C-T IL1RAP c.1-8261C>T - IntronicSNV - 1/10
5-7865891-C-A FASTKD3 c.1524+120G>T - IntronicSNV - 3/6
12-6447437-C-G TNFRSF1A c.39+3505G>C - IntronicSNV - 1/9
16-55526487-G-T MMP2 c.1187-583G>T - IntronicSNV - 8/12
8-18074322-A-G NAT1 c.-85-2598A>G - intron_variant - 1/2
9-137593652-G-C COL5A1 c.654+473G>C - IntronicSNV - 4/65
17-2508249-G-A PAFAH1B1 c.-191+10949G>A - intron_variant - 1/10
5-138714474-G-A SLC23A1 c.1086-101C>T - IntronicSNV - 9/14
3-190281376-C-A IL1RAP c.1-703C>A - IntronicSNV - 1/10
13-113796138-G-A F10 c.502+774G>A - IntronicSNV - 5/7
17-2574821-G-A PAFAH1B1 c.569-1128G>A - IntronicSNV - 6/10
22-33204334-C-T TIMP3 c.121+6226C>T - IntronicSNV - 1/4
11-100905056-C-A PGR c.*4791G>T - 3-UTRSNV 8/8 -
12-6447522-G-T TNFRSF1A c.39+3420C>A - IntronicSNV - 1/9
12-6447522-G-A TNFRSF1A c.39+3420C>T - IntronicSNV - 1/9
13-33622817-G-A KL c.820-5087G>A - IntronicSNV - 1/4
2-188362974-C-T TFPI c.122-1169G>A - IntronicSNV - 2/7
7-94923856-G-A PPP1R9A c.*4241G>A - 3-UTRSNV 20/20 -
11-112029721-A-G IL18 c.1-3945T>C - IntronicSNV - 1/5
11-112029721-A-T IL18 c.1-3945T>A - IntronicSNV - 1/5
3-190267900-G-T IL1RAP c.1-14179G>T - IntronicSNV - 1/10
10-54526622-A-G MBL2 c.*1275T>C - 3-UTRSNV 4/4 -
3-190267900-G-C IL1RAP c.1-14179G>C - IntronicSNV - 1/10
3-190267900-G-A IL1RAP c.1-14179G>A - IntronicSNV - 1/10
16-55539191-C-G MMP2 c.1730-60C>G - IntronicSNV - 12/12
2-234681416-T-C UGT1A1 c.*211T>C - 3-UTRSNV 5/5 -
7-150707488-C-T NOS3 c.2685+113C>T - IntronicSNV - 21/26
3-190357532-A-G IL1RAP c.1052-4505A>G - IntronicSNV - 8/10
3-190357532-A-T IL1RAP c.1052-4505A>T - IntronicSNV - 8/10
2-190032578-C-T COL5A2 c.97+11656G>A - IntronicSNV - 1/53
9-120480812-T-C TLR4 c.*3886T>C - IntergenicSNV 3/3 -
3-190324570-G-A IL1RAP c.351-2214G>A - IntronicSNV - 3/10
2-102643525-C-T IL1R2 c.1030+810C>T - IntronicSNV - 8/8
5-79945140-T-C DHFR c.242+68A>G - IntronicSNV - 3/5
1-12240824-T-G TNFRSF1B c.79-8029T>G - IntronicSNV - 1/9
5-7880287-T-C MTRR c.780+1852T>C - IntronicSNV - 5/14
8-67086350-G-A TRIM55 c.1525-356G>A - IntronicSNV - 9/9
14-52788472-A-C PTGER2 c.844-5467A>C - IntronicSNV - 1/1
17-48269302-G-A COL1A1 c.2028+39C>T - IntronicSNV - 30/50
17-2577091-C-T PAFAH1B1 c.672-263C>T - IntronicSNV - 7/10
3-190357532-A-C IL1RAP c.1052-4505A>C - IntronicSNV - 8/10
15-51588847-G-A CYP19A1 c.-39+41845C>T - intron_variant - 1/9
15-51588847-G-T CYP19A1 c.-39+41845C>A - intron_variant - 1/9
2-190001183-T-A COL5A2 c.98-26008A>T - IntronicSNV - 1/53
2-190001183-T-C COL5A2 c.98-26008A>G - IntronicSNV - 1/53
14-81471139-A-C TSHR c.170+48945A>C - IntronicSNV - 1/9
14-81471139-A-T TSHR c.170+48945A>T - IntronicSNV - 1/9
7-94950055-T-G PON1 c.75-2350A>C - IntronicSNV - 1/8
1-226019774-G-C EPHX1 c.364+114G>C - IntronicSNV - 3/8
14-81564339-A-T TSHR c.614+1288A>T - IntronicSNV - 7/9
21-44474663-G-T CBS c.1553-570C>A - IntronicSNV - 16/16
4-103426339-T-C NFKB1 c.-8+3394T>C - intron_variant - 1/23
5-142697295-A-T NR3C1 c.1185-3562T>A - IntronicSNV - 2/8
10-54529325-A-G MBL2 c.305-250T>C - IntronicSNV - 2/3
4-100258155-C-T ADH1C c.1104-222G>A - IntronicSNV - 8/8
1-169538466-G-A F5 c.373+2993C>T - IntronicSNV - 3/24
14-81448282-C-G TSHR c.170+26088C>G - IntronicSNV - 1/9
14-81448282-C-A TSHR c.170+26088C>A - IntronicSNV - 1/9
9-125145329-G-C PTGS1 c.763-459G>C - IntronicSNV - 7/10
1-186952409-A-G PLA2G4A c.2118+3805A>G - IntronicSNV - 17/17
2-102774054-G-A IL1R1 c.1-131G>A - IntronicSNV - 2/11
2-189874873-C-G COL3A1 c.3824-31C>G - IntronicSNV - 48/50
2-189874873-C-A COL3A1 c.3824-31C>A - IntronicSNV - 48/50
9-125145743-T-C PTGS1 c.763-45T>C - IntronicSNV - 7/10
16-27354531-C-G IL4R c.209+951C>G - IntronicSNV - 4/10
16-27354531-C-T IL4R c.209+951C>T - IntronicSNV - 4/10
9-125136884-A-G PTGS1 c.95-3294A>G - IntronicSNV - 2/10
15-51579975-C-A CYP19A1 c.1-44866G>T - IntronicSNV - 1/9
15-51614124-C-T CYP19A1 c.-39+16568G>A - intron_variant - 1/9
1-226015116-A-G EPHX1 c.1-1315A>G - IntronicSNV - 1/8
17-2586229-A-G PAFAH1B1 c.*1133A>G - 3-UTRSNV 11/11 -
9-137688577-A-G COL5A1 c.2845-117A>G - IntronicSNV - 35/65
15-51594972-G-A CYP19A1 c.-39+35720C>T - intron_variant - 1/9
14-81524407-T-C TSHR c.171-4085T>C - IntronicSNV - 1/9
14-81607731-C-A TSHR c.881+1520C>A - IntronicSNV - 9/9
2-188343497-T-G TFPI c.628+5354A>C - IntronicSNV - 6/7
2-188343497-T-C TFPI c.628+5354A>G - IntronicSNV - 6/7
11-102663503-T-C MMP1 c.900-34A>G - IntronicSNV - 6/9
2-25384833-T-C POMC c.133-212A>G - IntronicSNV - 3/3
2-188368791-C-T TFPI c.1-296G>A - IntronicSNV - 1/7
13-33610151-T-G KL c.820-17753T>G - IntronicSNV - 1/4
10-75676220-G-A PLAU c.1193G>A p.Arg398His Missense 11/11 -
10-14882340-A-T HSPA14 c.221+184A>T - IntronicSNV - 3/13
17-61556298-C-G ACE c.418-70C>G - IntronicSNV - 2/24
10-75676220-G-T PLAU c.1193G>T p.Arg398Leu Missense 11/11 -
15-51516055-C-A CYP19A1 c.452-1333G>T - IntronicSNV - 4/9
2-188414161-T-A TFPI c.-3+4766A>T - intron_variant - 1/7
2-188414161-T-C TFPI c.-3+4766A>G - intron_variant - 1/7
10-90764891-G-C FAS c.196+1940G>C - IntronicSNV - 2/8
10-90764891-G-A FAS c.196+1940G>A - IntronicSNV - 2/8
13-113792170-T-A F10 c.232-601T>A - IntronicSNV - 2/7
9-125154439-T-C PTGS1 c.1445-29T>C - IntronicSNV - 10/10
4-103536670-A-G NFKB1 c.2750-921A>G - IntronicSNV - 23/23
14-64914537-T-C MTHFD1 c.2179-398T>C - IntronicSNV - 22/27
11-46754649-C-T F2 c.1654+3538C>T - IntronicSNV - 12/13
14-64861387-G-A MTHFD1 c.42-6124G>A - IntronicSNV - 1/27
22-37526529-G-A IL2RB c.904-1641C>T - IntronicSNV - 9/9
2-188341047-G-A TFPI c.628+7804C>T - IntronicSNV - 6/7
3-190290630-G-T IL1RAP c.64+8488G>T - IntronicSNV - 2/10
14-81600351-C-A TSHR c.693-5672C>A - IntronicSNV - 8/9
6-41253327-G-C TREM1 c.49+1018C>G - IntronicSNV - 1/3
2-102772669-C-G IL1R1 c.1-1516C>G - IntronicSNV - 2/11
17-2573173-A-G PAFAH1B1 c.400-284A>G - IntronicSNV - 5/10
13-113796138-G-C F10 c.502+774G>C - IntronicSNV - 5/7
4-103536670-A-T NFKB1 c.2750-921A>T - IntronicSNV - 23/23
2-102616978-T-A IL1R2 c.1-8060T>A - IntronicSNV - 1/8
2-102616978-T-C IL1R2 c.1-8060T>C - IntronicSNV - 1/8
4-100263584-T-G ADH1C c.828+368A>C - IntronicSNV - 6/8
1-162776137-G-A HSD17B7 c.903+855G>A - IntronicSNV - 8/8
6-41245172-C-A TREM1 c.600-1204G>T - IntronicSNV - 3/3
6-41245172-C-T TREM1 c.600-1204G>A - IntronicSNV - 3/3
8-27389167-G-A EPHX2 c.1171-5134G>A - IntronicSNV - 12/18
5-132425049-A-C HSPA4 c.1244+196A>C - IntronicSNV - 10/18
14-81501957-T-G TSHR c.171-26535T>G - IntronicSNV - 1/9
14-81501957-T-C TSHR c.171-26535T>C - IntronicSNV - 1/9
7-30693775-C-T CRHR2 c.1177-559G>A - IntronicSNV - 12/12
6-41247764-T-C TREM1 c.599+935A>G - IntronicSNV - 3/3
10-14901929-C-T HSPA14 c.993+3987C>T - IntronicSNV - 10/13
7-30716643-T-A CRHR2 c.310+4888A>T - IntronicSNV - 3/12
7-30716643-T-C CRHR2 c.310+4888A>G - IntronicSNV - 3/12
9-137654103-T-C COL5A1 c.1989+279T>C - IntronicSNV - 19/65
13-113800622-T-C F10 c.748-1071T>C - IntronicSNV - 6/7
17-28554086-T-A SLC6A4 c.-220-4153A>T - intron_variant - 1/14
17-28554086-T-G SLC6A4 c.-220-4153A>C - intron_variant - 1/14
4-100268131-C-T ADH1C c.259+32G>A - IntronicSNV - 3/8
7-94927495-G-A PON1 c.*761C>T - IntergenicSNV 9/9 -
11-102707305-G-T MMP3 c.1334-348C>A - IntronicSNV - 9/9
21-44483772-C-T CBS c.828+238G>A - IntronicSNV - 9/16
5-79952034-A-C MSH3 c.238-196A>C - IntronicSNV - 1/23
2-188412244-T-A TFPI c.-3+6683A>T - intron_variant - 1/7
1-12240676-G-A TNFRSF1B c.79-8177G>A - IntronicSNV - 1/9
3-190282714-T-G IL1RAP c.64+572T>G - IntronicSNV - 2/10
3-190282714-T-C IL1RAP c.64+572T>C - IntronicSNV - 2/10
22-37538328-T-C IL2RB c.282+146A>G - IntronicSNV - 4/9
13-113784998-G-A F10 c.231+1072G>A - IntronicSNV - 2/7
13-113784998-G-T F10 c.231+1072G>T - IntronicSNV - 2/7
12-102796522-G-C IGF1 c.403-178C>G - IntronicSNV - 3/3
3-190293555-G-A IL1RAP c.64+11413G>A - IntronicSNV - 2/10
11-102590717-G-T MMP8 c.623-1411C>A - IntronicSNV - 4/9
11-102707305-G-A MMP3 c.1334-348C>T - IntronicSNV - 9/9
3-190314720-C-T IL1RAP c.65-7197C>T - IntronicSNV - 2/10
3-190314720-C-A IL1RAP c.65-7197C>A - IntronicSNV - 2/10
8-27396111-G-T EPHX2 c.1243-65G>T - IntronicSNV - 13/18
1-78963437-G-A PTGFR c.798+4211G>A - IntronicSNV - 2/2
4-103478703-C-T NFKB1 c.259-9441C>T - IntronicSNV - 5/23
2-189845515-A-G COL3A1 c.80-3971A>G - IntronicSNV - 1/50
2-189845515-A-C COL3A1 c.80-3971A>C - IntronicSNV - 1/50
8-27402494-C-T EPHX2 c.*455C>T - IntergenicSNV 19/19 -
16-27331974-C-G IL4R c.-152+6633C>G - intron_variant - 1/10
5-76128649-C-G F2RL1 c.217C>G p.Leu73Val Missense 2/2 -
4-100232624-T-G ADH1B c.964+54A>C - IntronicSNV - 7/8
14-81574283-T-A TSHR c.615-436T>A - IntronicSNV - 7/9
15-51557257-T-C CYP19A1 c.1-22148A>G - IntronicSNV - 1/9
13-113763926-G-T F7 c.131-1078G>T - IntronicSNV - 2/8
9-137659688-C-A COL5A1 c.2232+488C>A - IntronicSNV - 24/65
7-95036992-C-T PON2 c.696-612G>A - IntronicSNV - 6/8
5-7879950-G-A MTRR c.780+1515G>A - IntronicSNV - 5/14
14-81457583-T-C TSHR c.170+35389T>C - IntronicSNV - 1/9
3-190296935-A-C IL1RAP c.64+14793A>C - IntronicSNV - 2/10
X-12889666-C-T TLR7 c.3+3966C>T - IntronicSNV - 2/2
X-12889666-C-G TLR7 c.3+3966C>G - IntronicSNV - 2/2
3-190296935-A-G IL1RAP c.64+14793A>G - IntronicSNV - 2/10
16-27354361-C-T IL4R c.209+781C>T - IntronicSNV - 4/10
11-100971940-A-C PGR c.1790-9333T>G - IntronicSNV - 2/7
1-12264355-A-C TNFRSF1B c.1105+2127A>C - IntronicSNV - 9/9
5-142756004-A-G NR3C1 c.1184+23217T>C - IntronicSNV - 2/8
1-154415777-A-G IL6R c.950-4824A>G - IntronicSNV - 6/9
11-117861055-C-T IL10RA c.367+720C>T - IntronicSNV - 3/6
7-95054340-T-C PON2 c.75-443A>G - IntronicSNV - 1/8
7-95054340-T-G PON2 c.75-443A>C - IntronicSNV - 1/8
15-51623785-A-G CYP19A1 c.-39+6907T>C - intron_variant - 1/9
3-190333876-G-A IL1RAP c.538-4188G>A - IntronicSNV - 4/10
21-34650791-A-G IL10RB c.332-1266A>G - IntronicSNV - 3/6
2-234672639-G-T UGT1A1 c.864+2842G>T - IntronicSNV - 1/4
15-51583939-A-G CYP19A1 c.-39+46753T>C - intron_variant - 1/9
6-43751359-C-T VEGFA c.1218-919C>T - IntronicSNV - 7/7
22-37525880-T-C IL2RB c.904-992A>G - IntronicSNV - 9/9
9-137702059-G-C COL5A1 c.3475-42G>C - IntronicSNV - 43/65
11-112026703-A-G IL18 c.1-927T>C - IntronicSNV - 1/5
17-28523726-G-T SLC6A4 c.*1748C>A - 3-UTRSNV 15/15 -
3-190276995-G-T IL1RAP c.1-5084G>T - IntronicSNV - 1/10
5-142679397-C-T NR3C1 c.1747+653G>A - IntronicSNV - 5/8
15-51551127-T-A CYP19A1 c.1-16018A>T - IntronicSNV - 1/9
22-33235517-C-T TIMP3 c.122-9922C>T - IntronicSNV - 1/4
13-33628989-A-G KL c.1331-195A>G - IntronicSNV - 2/4
9-137646511-C-T COL5A1 c.1827+339C>T - IntronicSNV - 16/65
11-117872086-G-A IL10RA c.*1730G>A - 3-UTRSNV 7/7 -
11-102709425-A-G MMP3 c.1086T>C p.Ala362Ala Synonymous 8/10 -
11-117872086-G-T IL10RA c.*1730G>T - 3-UTRSNV 7/7 -
7-94948841-C-A PON1 c.75-1136G>T - IntronicSNV - 1/8
6-161161904-G-C PLG c.2019-439G>C - IntronicSNV - 16/18
14-81483897-G-A TSHR c.171-44595G>A - IntronicSNV - 1/9
7-95063000-C-T PON2 c.74+1190G>A - IntronicSNV - 1/8
7-94052663-G-A COL1A2 c.2565+233G>A - IntronicSNV - 40/51
16-55545346-A-T LPCAT2 c.171+2082A>T - IntronicSNV - 1/13
16-55545346-A-G LPCAT2 c.171+2082A>G - IntronicSNV - 1/13
1-226035289-T-A TMEM63A c.2251-375A>T - IntronicSNV - 23/24
1-226035289-T-C TMEM63A c.2251-375A>G - IntronicSNV - 23/24
5-142767740-C-A NR3C1 c.1184+11481G>T - IntronicSNV - 2/8
22-33220693-A-G TIMP3 c.121+22585A>G - IntronicSNV - 1/4
19-44162954-A-G PLAUR c.311-2162T>C - IntronicSNV - 3/6
10-54528266-G-A MBL2 c.378C>T p.Leu126Leu Synonymous 4/4 -
1-169547717-G-A F5 c.250+3952C>T - IntronicSNV - 2/24
1-186830092-G-A PLA2G4A c.33+6573G>A - IntronicSNV - 2/17
2-189862097-G-A COL3A1 c.1851G>A p.Gln617Gln Synonymous 26/51 -
11-101000501-A-G PGR c.1-700T>C - 5-UTRSNV 1/8 -
19-17003789-T-A CPAMD8 c.*130A>T - 3-UTRSNV 42/42 -
4-123373897-G-A IL2 c.352-880C>T - IntronicSNV - 3/3
10-6103762-C-A IL2RA c.64+289G>T - IntronicSNV - 1/7
22-37542201-G-A IL2RB c.1-1989C>T - IntronicSNV - 1/9
4-142599222-C-T IL15 c.-501-10753C>T - intron_variant - 2/9
22-33262935-T-C SYN3 c.619-1944A>G - IntronicSNV - 5/13
16-50756774-C-T NOD2 c.2798+158C>T - IntronicSNV - 8/11
6-44226195-T-C NFKBIE c.*761A>G - 3-UTRSNV 6/6 -
4-129195334-C-A PGRMC2 c.419-1662G>T - intron_variant - 1/2
13-113801737-C-A F10 c.792C>A p.Thr264Thr Synonymous 7/8 -
13-113801737-C-T F10 c.792C>T p.Thr264Thr Synonymous 7/8 -
7-100781615-G-A SERPINE1 c.*892G>A - 3-UTRSNV 9/9 -
11-102595413-C-T MMP8 c.102+72G>A - IntronicSNV - 1/9
10-6103762-C-T IL2RA c.64+289G>A - IntronicSNV - 1/7
2-102613581-A-C IL1R2 c.-62+5108A>C - intron_variant - 1/8
22-37532665-T-C IL2RB c.538-232A>G - IntronicSNV - 6/9
1-154411419-A-C IL6R c.949+2833A>C - IntronicSNV - 6/9
2-189905397-C-T COL5A2 c.3633+915G>A - IntronicSNV - 50/53
13-113780797-A-C F10 c.71-2969A>C - IntronicSNV - 1/7
14-81572939-T-C TSHR c.615-1780T>C - IntronicSNV - 7/9
1-154438880-T-C IL6R c.*1024T>C - 3-UTRSNV 10/10 -
2-188408848-C-T TFPI c.-3+10079G>A - intron_variant - 1/7
7-94033337-T-G COL1A2 c.280-531T>G - IntronicSNV - 6/51
2-189855943-G-A COL3A1 c.852+160G>A - IntronicSNV - 11/50
16-27374927-T-G IL4R c.2254T>G p.Ser752Ala Missense 11/11 -
17-61573761-T-C ACE c.3387T>C p.Phe1129Phe Synonymous 23/25 -
X-12891960-A-G TLR7 c.3+6260A>G - IntronicSNV - 2/2
22-33224779-C-T TIMP3 c.122-20660C>T - IntronicSNV - 1/4
4-100235053-A-T ADH1B c.753T>A p.Ile251Ile Synonymous 6/9 -
7-94030899-T-C COL1A2 c.246T>C p.Asp82Asp Synonymous 6/52 -
5-76255756-G-C CRHBP c.693+1042G>C - IntronicSNV - 5/6
5-76255756-G-A CRHBP c.693+1042G>A - IntronicSNV - 5/6
4-187000256-C-T TLR3 c.633+71C>T - IntronicSNV - 3/4
4-100235053-A-G ADH1B c.753T>C p.Ile251Ile Synonymous 6/9 -
22-33232158-A-C TIMP3 c.122-13281A>C - IntronicSNV - 1/4
1-186872454-A-G PLA2G4A c.379-3643A>G - IntronicSNV - 5/17
1-186872454-A-T PLA2G4A c.379-3643A>T - IntronicSNV - 5/17
1-169527101-T-C F5 c.731-996A>G - IntronicSNV - 5/24
1-78999796-T-C PTGFR c.799-2295T>C - IntronicSNV - 2/2
7-30709475-C-A CRHR2 c.311-2546G>T - IntronicSNV - 3/12
7-30709475-C-G CRHR2 c.311-2546G>C - IntronicSNV - 3/12
4-123376135-G-A IL2 c.208-1127C>T - IntronicSNV - 2/3
4-142634956-G-C IL15 c.1-7346G>C - IntronicSNV - 2/9
16-55527682-A-G MMP2 c.1322+477A>G - IntronicSNV - 9/12
2-102610828-C-T IL1R2 c.-62+2355C>T - intron_variant - 1/8
21-34644082-G-T IL10RB c.173+3260G>T - IntronicSNV - 2/6
22-33232158-A-T TIMP3 c.122-13281A>T - IntronicSNV - 1/4
13-113798884-C-T F10 c.747+475C>T - IntronicSNV - 6/7
16-55526487-G-A MMP2 c.1187-583G>A - IntronicSNV - 8/12
16-55526487-G-C MMP2 c.1187-583G>C - IntronicSNV - 8/12
3-190338412-G-A IL1RAP c.703+183G>A - IntronicSNV - 5/10
17-48262775-A-T COL1A1 c.*88T>A - 3-UTRSNV 51/51 -
17-48262775-A-C COL1A1 c.*88T>G - 3-UTRSNV 51/51 -
2-102610828-C-A IL1R2 c.-62+2355C>A - intron_variant - 1/8
2-113888900-T-A IL1RN c.327+166T>A - IntronicSNV - 5/5
1-172630811-A-G FASLG c.394+1531A>G - IntronicSNV - 2/3
8-27367839-G-C EPHX2 c.661-1514G>C - IntronicSNV - 5/18
3-190343262-A-G IL1RAP c.776-1850A>G - IntronicSNV - 6/10
8-27367839-G-A EPHX2 c.661-1514G>A - IntronicSNV - 5/18
9-120480210-C-A TLR4 c.*3284C>A - IntergenicSNV 3/3 -
1-169559035-C-T SELP c.*2-336G>A - intron_variant - 16/16
3-190285822-G-A IL1RAP c.64+3680G>A - IntronicSNV - 2/10
3-190325647-C-T IL1RAP c.351-1137C>T - IntronicSNV - 3/10
14-81442234-C-T TSHR c.170+20040C>T - IntronicSNV - 1/9
15-51532647-T-C CYP19A1 c.145+2318A>G - IntronicSNV - 2/9
16-27341059-A-G IL4R c.-151-328A>G - intron_variant - 1/10
16-27341059-A-C IL4R c.-151-328A>C - intron_variant - 1/10
3-190343262-A-T IL1RAP c.776-1850A>T - IntronicSNV - 6/10