PMID: 22433082

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology of disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
2012-07

562 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
19-49206985-G-A FUT2 c.772G>A p.Gly258Ser Missense 2/2 -
14-35682172-T-C KIAA0391 c.1275+32189T>C - IntronicSNV - 5/7
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15
22-44332570-G-A PNPLA3 c.758-361G>A - IntronicSNV - 5/8
17-26106675-A-G NOS2 c.1005-593T>C - IntronicSNV - 9/26
2-46537604-A-G EPAS1 c.26+12528A>G - IntronicSNV - 1/15
16-68591230-A-T ZFP90 c.34-671A>T - IntronicSNV - 2/4
16-68591230-A-C ZFP90 c.34-671A>C - IntronicSNV - 2/4
1-205235990-G-A TMCC2 c.748-2088G>A - IntronicSNV - 2/4
12-11855773-G-A ETV6 c.34-49611G>A - IntronicSNV - 1/7
16-28490517-T-C CLN3 c.1057-1319A>G - IntronicSNV - 13/14
14-25102160-C-T GZMB c.164G>A p.Arg55Gln Missense 2/5 -
4-89045331-A-G ABCG2 c.532-2387T>C - IntronicSNV - 5/15
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
5-176817636-A-G SLC34A1 c.936+2263A>G - IntronicSNV - 8/12
2-43806918-C-T THADA c.722-1172G>A - IntronicSNV - 8/37
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
16-58567238-A-G CNOT1 c.5895+813T>C - IntronicSNV - 40/48
7-50428428-C-A IKZF1 c.161-15803C>A - intron_variant - 3/7
20-62327582-G-C RTEL1 c.*444G>C - 3-UTRSNV 35/35 -
3-38593393-T-C SCN5A c.4814-344A>G - IntronicSNV - 27/27
21-44478497-C-T CBS c.1359-134G>A - IntronicSNV - 14/16
4-939087-C-T TMEM175 c.1-2441C>T - IntronicSNV - 1/10
22-37467392-G-A TMPRSS6 c.1583-320C>T - IntronicSNV - 13/17
20-62327582-G-A RTEL1 c.*444G>A - 3-UTRSNV 35/35 -
12-20857467-A-C SLCO1C1 c.272-1416A>C - IntronicSNV - 3/14
9-139111870-G-T QSOX2 c.822-860C>A - IntronicSNV - 6/11
19-33453659-T-C CEP89 c.147-2695A>G - IntronicSNV - 2/18
19-33356891-T-C SLC7A9 c.88-1209A>G - IntronicSNV - 2/12
2-73868328-A-G NAT8 c.428T>C p.Phe143Ser Missense 2/2 -
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
22-21982892-C-T YDJC c.787G>A p.Ala263Thr Missense 5/5 -
21-43836186-G-A UBASH3A c.554-365G>A - IntronicSNV - 4/13
9-117552885-T-C TNFSF15 c.603A>G p.Val201Val Synonymous 4/4 -
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
3-122048644-A-G CSTA c.66+4439A>G - IntronicSNV - 1/2
1-25674785-C-T TMEM50A c.207-3332C>T - IntronicSNV - 3/6
6-167437988-C-T FGFR1OP c.807-282C>T - IntronicSNV - 8/12
22-33084511-A-C SYN3 c.709-91789T>G - IntronicSNV - 6/13
9-98259703-T-A PTCH1 c.394+8986A>T - IntronicSNV - 2/23
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
4-77368847-G-A SHROOM3 c.168+11474G>A - IntronicSNV - 1/10
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
2-61186829-A-G PUS10 c.1000+698T>C - IntronicSNV - 11/17
1-227797950-A-G ZNF678 c.123+27643A>G - IntronicSNV - 2/3
1-180962282-A-G STX6 c.363+217T>C - IntronicSNV - 4/7
5-35876274-A-G IL7R c.1066A>G p.Ile356Val Missense 8/8 -
3-195800547-C-T TFRC c.434+254G>A - IntronicSNV - 4/18
12-40620808-C-G LRRK2 c.237+1366C>G - IntronicSNV - 2/50
1-159272060-T-C FCER1A c.1-95T>C - IntronicSNV - 2/6
4-9966380-A-G SLC2A9 c.594+15836T>C - IntronicSNV - 6/12
1-197727642-A-G DENND1B c.82+14356T>C - IntronicSNV - 2/15
3-66431602-A-G LRIG1 c.2770+301T>C - IntronicSNV - 17/18
11-2489342-C-T KCNQ1 c.386+22628C>T - IntronicSNV - 1/15
7-72904810-C-T BAZ1B c.694-1089G>A - IntronicSNV - 5/19
3-123094451-T-C ADCY5 c.1135-23023A>G - IntronicSNV - 1/20
10-1156165-T-C WDR37 c.1103+4958T>C - IntronicSNV - 11/13
19-17752689-A-C UNC13A c.2473-324T>G - IntronicSNV - 20/43
4-106619140-G-T INTS12 c.156+1867C>A - IntronicSNV - 3/7
13-36652617-T-C DCLK1 c.723+33389A>G - IntronicSNV - 3/17
19-2170954-A-T DOT1L c.81+6690A>T - IntronicSNV - 1/27
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
4-77360431-G-A SHROOM3 c.168+3058G>A - IntronicSNV - 1/10
16-58622178-G-A CNOT1 c.211-396C>T - IntronicSNV - 3/48
1-3083712-T-A PRDM16 c.38-18977T>A - IntronicSNV - 1/16
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
1-3083712-T-C PRDM16 c.38-18977T>C - IntronicSNV - 1/16
6-127452639-C-G RSPO3 c.97+12205C>G - IntronicSNV - 1/4
X-153945602-G-A GAB3 c.73-998C>T - IntronicSNV - 1/9
6-31903804-G-A C2 c.954G>A p.Glu318Glu Synonymous 7/18 -
6-111673714-T-A REV3L c.7185-720A>T - IntronicSNV - 19/32
6-111673714-T-C REV3L c.7185-720A>G - IntronicSNV - 19/32
1-17306675-C-A MFAP2 c.-42+407G>T - intron_variant - 1/8
7-2869985-T-C GNA12 c.309+13502A>G - IntronicSNV - 1/3
12-88953561-C-A KITLG c.16-13919G>T - IntronicSNV - 1/8
2-191538562-C-T NAB1 c.1005+684C>T - IntronicSNV - 6/9
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
6-31903804-G-C C2 c.954G>C p.Glu318Asp Missense 7/18 -
6-142703877-G-A ADGRG6 c.1138+721G>A - IntronicSNV - 5/24
1-16299312-C-T ZBTB17 c.-3+222G>A - intron_variant - 2/15
12-14653867-C-G ATF7IP c.*2860C>G - IntergenicSNV 15/15 -
12-14653867-C-A ATF7IP c.*2860C>A - IntergenicSNV 15/15 -
12-66359752-C-A HMGA2 c.*2680C>A - 3-UTRSNV 5/5 -
22-37469591-G-A TMPRSS6 c.1563C>T p.Asp521Asp Synonymous 13/18 -
22-37469591-G-C TMPRSS6 c.1563C>G p.Asp521Glu Missense 13/18 -
7-69806023-T-A AUTS2 c.661-94715T>A - IntronicSNV - 4/17
1-17306675-C-G MFAP2 c.-42+407G>C - intron_variant - 1/8
16-11179873-A-G CLEC16A c.2116+24994A>G - IntronicSNV - 19/23
7-100235970-C-A TFR2 c.473+2339G>T - IntronicSNV - 3/17
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
12-28534415-G-C CCDC91 c.655-9822G>C - IntronicSNV - 7/12
12-28534415-G-T CCDC91 c.655-9822G>T - IntronicSNV - 7/12
1-196646176-T-G CFH c.428-430T>G - IntronicSNV - 4/21
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
16-31368874-T-C ITGAX c.430+189T>C - IntronicSNV - 5/29
19-55526345-T-G GP6 c.968A>C p.Lys323Thr Missense 8/8 -
3-66431602-A-C LRIG1 c.2770+301T>G - IntronicSNV - 17/18
5-156932376-A-C ADAM19 c.1130+301T>G - IntronicSNV - 11/22
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
5-158750769-C-G IL12B c.89-432G>C - IntronicSNV - 2/7
5-158750769-C-T IL12B c.89-432G>A - IntronicSNV - 2/7
3-119219934-G-A TIMMDC1 c.360+227G>A - IntronicSNV - 2/6
9-71434707-A-C PIP5K1B c.-1+1246A>C - intron_variant - 3/15
9-71434707-A-T PIP5K1B c.-1+1246A>T - intron_variant - 3/15
5-53300662-A-G ARL15 c.462+108370T>C - IntronicSNV - 4/4
1-165394882-T-A RXRG c.297+3074A>T - IntronicSNV - 2/9
1-165394882-T-C RXRG c.297+3074A>G - IntronicSNV - 2/9
10-6098949-C-T IL2RA c.64+5102G>A - IntronicSNV - 1/7
1-8526142-G-A RERE c.1105-59C>T - IntronicSNV - 10/22
7-151407801-G-A PRKAG2 c.467-35078C>T - IntronicSNV - 3/15
3-133537067-A-G SRPRB c.602+1291A>G - IntronicSNV - 7/7
1-8021973-G-C PARK7 c.-24+120G>C - intron_variant - 1/6
4-95514609-A-C PDLIM5 c.593+7014A>C - IntronicSNV - 7/12
11-2502319-C-T KCNQ1 c.386+35605C>T - IntronicSNV - 1/15
18-53155002-A-G TCF4 c.146-23634T>C - IntronicSNV - 3/19
5-173362458-G-A CPEB4 c.1258+2955G>A - IntronicSNV - 3/9
19-49208865-G-A FUT2 c.*1620G>A - 3-UTRSNV 2/2 -
17-64318357-G-A PRKCA c.205+16112G>A - IntronicSNV - 2/16
17-64318357-G-C PRKCA c.205+16112G>C - IntronicSNV - 2/16
6-90973159-C-A BACH2 c.-353+8409G>T - intron_variant - 2/8
6-105407999-A-C LIN28B c.198+1838A>C - IntronicSNV - 2/3
1-247600301-A-C NLRP3 c.2669+859A>C - IntronicSNV - 6/8
4-145643079-G-C HHIP c.1760+2971G>C - IntronicSNV - 11/12
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
13-74520186-T-A KLF12 c.34-1979A>T - IntronicSNV - 2/7
2-56111309-C-T EFEMP1 c.518-2440G>A - IntronicSNV - 5/11
15-71645120-G-A THSD4 c.1016-58906G>A - IntronicSNV - 5/16
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
14-101032217-T-C BEGAIN c.14+2031A>G - IntronicSNV - 2/6
20-1610551-T-A SIRPG c.*3-269A>T - intron_variant - 5/5
15-58726744-G-C LIPC c.88+2425G>C - IntronicSNV - 1/8
12-121420807-G-A HNF1A c.326+3910G>A - IntronicSNV - 1/9
20-33171772-G-A PIGU c.926+1469C>T - IntronicSNV - 9/11
6-24441746-G-A GPLD1 c.2020+4028C>T - IntronicSNV - 20/24
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
1-117104215-A-G CD58 c.70+9310T>C - IntronicSNV - 1/5
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
1-207872290-T-C CR1L c.1143-244T>C - IntronicSNV - 7/11
1-11899033-G-A CLCN6 c.2529+316G>A - IntronicSNV - 22/22
1-11899033-G-T CLCN6 c.2529+316G>T - IntronicSNV - 22/22
1-162133117-G-A NOS1AP c.177+8851G>A - IntronicSNV - 2/9
15-84582124-G-A ADAMTSL3 c.1981G>A p.Val661Met Missense 16/30 -
22-29100711-T-C CHEK2 c.976-1157A>G - IntronicSNV - 8/15
3-133475812-G-A TF c.829G>A p.Gly277Ser Missense 7/17 -
9-117566440-A-G TNFSF15 c.210+1643T>C - IntronicSNV - 1/3
11-8639200-T-C TRIM66 c.*291A>G - 3-UTRSNV 20/20 -
7-2789880-A-C GNA12 c.526-16745T>G - IntronicSNV - 2/3
7-2789880-A-G GNA12 c.526-16745T>C - IntronicSNV - 2/3
6-111655530-G-A REV3L c.7681-960C>T - IntronicSNV - 23/32
12-114793240-C-T TBX5 c.*97G>A - 3-UTRSNV 8/8 -
5-96101944-A-G ERAP1 c.2819-3012T>C - IntronicSNV - 19/19
6-25870542-T-G SLC17A3 c.1-1927A>C - IntronicSNV - 1/12
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
1-162112910-C-G NOS1AP c.106-11285C>G - IntronicSNV - 1/9
7-151415041-A-G PRKAG2 c.467-42318T>C - IntronicSNV - 3/15
19-45382034-A-G NECTIN2 c.*157A>G - 3-UTRSNV 6/6 -
17-73872948-A-G TRIM47 c.676-54T>C - IntronicSNV - 1/5
12-114795443-G-A TBX5 c.833-1532C>T - IntronicSNV - 7/7
16-309155-C-A FAM234A c.269-327C>A - IntronicSNV - 3/12
9-139266496-C-A CARD9 c.35G>T p.Ser12Ile Missense 2/13 -
6-151901409-C-T CCDC170 c.1093-5615C>T - IntronicSNV - 6/10
2-56096892-A-G EFEMP1 c.1320+963T>C - IntronicSNV - 11/11
15-79235446-T-C CTSH c.91+1787A>G - IntronicSNV - 1/11
2-238443226-A-G MLPH c.1040A>G p.His347Arg Missense 9/16 -
22-37581485-C-A C1QTNF6 c.62G>T p.Gly21Val Missense 2/4 -
3-105586714-T-C CBLB c.1-293A>G - IntronicSNV - 1/18
3-105586714-T-A CBLB c.1-293A>T - IntronicSNV - 1/18
22-37581485-C-G C1QTNF6 c.62G>C p.Gly21Ala Missense 2/4 -
22-24990213-A-G GGT1 c.-429+10437A>G - intron_variant - 1/15
6-25813150-G-A SLC17A1 c.806C>T p.Thr269Ile Missense 8/13 -
15-100786271-A-G ADAMTS17 c.1075+8070T>C - IntronicSNV - 7/21
3-49719729-G-T APEH c.1604-52G>T - IntronicSNV - 17/21
19-46182304-T-A GIPR c.1152+820T>A - IntronicSNV - 12/13
20-33907161-T-C UQCC1 c.574-4593A>G - IntronicSNV - 7/9
15-99194896-C-G IGF1R c.94+1992C>G - IntronicSNV - 1/20
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
2-219943846-G-A NHEJ1 c.589-918C>T - IntronicSNV - 5/7
1-65992625-C-A LEPR c.1-38624C>A - IntronicSNV - 2/19
1-65992625-C-T LEPR c.1-38624C>T - IntronicSNV - 2/19
17-79596811-C-A NPLOC4 c.36G>T p.Pro12Pro Synonymous 2/17 -
17-79596811-C-T NPLOC4 c.36G>A p.Pro12Pro Synonymous 2/17 -
21-35880072-G-T KCNE1 c.-162+3327C>A - intron_variant - 2/3
1-66089782-C-T LEPR c.2673+1118C>T - IntronicSNV - 19/19
1-184020945-G-A TSEN15 c.56G>A p.Gly19Asp Missense 1/4 -
16-50739582-C-G NOD2 c.541-2184C>G - IntronicSNV - 2/11
3-39523003-T-C MOBP c.-5+1389T>C - intron_variant - 2/3
4-89045331-A-T ABCG2 c.532-2387T>A - IntronicSNV - 5/15
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
2-88924622-T-C EIF2AK3 c.308+1863A>G - IntronicSNV - 1/16
4-9926967-T-G SLC2A9 c.728-4771A>C - IntronicSNV - 7/12
4-18017730-T-C LCORL c.154+5491A>G - IntronicSNV - 1/6
19-3428834-G-C NFIC c.634+3659G>C - IntronicSNV - 3/8
1-7879063-C-T PER3 c.1499-282C>T - IntronicSNV - 13/21
1-21786068-C-T NBPF3 c.134-9113C>T - IntronicSNV - 2/14
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
6-105407662-A-G LIN28B c.198+1501A>G - IntronicSNV - 2/3
10-105677897-A-C STN1 c.-102T>G - 5_prime_UTR_variant 1/10 -
6-32172993-C-T NOTCH4 c.2866-827G>A - IntronicSNV - 18/29
3-72437413-C-T RYBP c.129-8835G>A - IntronicSNV - 1/3
1-6279370-G-C RNF207 c.1808G>C p.Gly603Ala Missense 18/18 -
1-200960307-G-A KIF21B c.2455-30C>T - IntronicSNV - 17/34
5-96244549-C-T ERAP2 c.2013-116C>T - IntronicSNV - 13/18
6-160969738-C-G LPA c.4974-47G>C - IntronicSNV - 30/38
15-76158983-G-A UBE2Q2 c.388-2309G>A - IntronicSNV - 3/12
1-156869047-G-T PEAR1 c.1-4672G>T - IntronicSNV - 1/22
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
6-20703952-A-G CDKAL1 c.372-35798A>G - IntronicSNV - 5/15
20-33764554-A-G PROCR c.655A>G p.Ser219Gly Missense 4/4 -
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
11-88557991-A-G GRM5 c.911+25083T>C - IntronicSNV - 3/8
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
3-128038373-C-A EEFSEC c.787-21703C>A - IntronicSNV - 4/6
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
4-1734239-T-C TACC3 c.1591+1211T>C - IntronicSNV - 6/15
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
6-130349119-C-T L3MBTL3 c.-16+5669C>T - intron_variant - 2/22
3-38766675-A-G SCN10A c.3218T>C p.Val1073Ala Missense 17/27 -
16-50756774-C-T NOD2 c.2798+158C>T - IntronicSNV - 8/11
19-55819845-C-T BRSK1 c.2090-162C>T - IntronicSNV - 17/18
6-33540692-T-A BAK1 c.*888A>T - 3-UTRSNV 6/6 -
6-33540692-T-G BAK1 c.*888A>C - 3-UTRSNV 6/6 -
11-47336320-A-T MADD c.3961-451A>T - IntronicSNV - 26/32
15-49735297-T-C FGF7 c.286+18517T>C - IntronicSNV - 2/3
2-25187599-C-T DNAJC27 c.171-1256G>A - IntronicSNV - 2/6
1-67790598-T-C IL12RB2 c.365-1820T>C - IntronicSNV - 3/15
15-53946593-A-C WDR72 c.1962+11176T>G - IntronicSNV - 14/19
4-106688904-A-G GSTCD c.979+38248A>G - IntronicSNV - 5/11
15-45698793-T-G SPATA5L1 c.1275+1090T>G - IntronicSNV - 2/7
15-45698793-T-A SPATA5L1 c.1275+1090T>A - IntronicSNV - 2/7
3-170717521-T-A SLC2A2 c.1069-566A>T - IntronicSNV - 8/10
9-117553249-T-A TNFSF15 c.302-63A>T - IntronicSNV - 3/3
9-117553249-T-C TNFSF15 c.302-63A>G - IntronicSNV - 3/3
10-46024729-A-G MARCH8 c.102+3829T>C - IntronicSNV - 2/6
2-37248015-T-C HEATR5B c.3854-36A>G - IntronicSNV - 24/35
15-84568158-T-A ADAMTSL3 c.1616-241T>A - IntronicSNV - 14/29
1-169099483-A-G ATP1B1 c.648+155A>G - IntronicSNV - 5/5
1-206943968-C-T IL10 c.378+284G>A - IntronicSNV - 3/4
9-863635-C-T DMRT1 c.538+16492C>T - IntronicSNV - 2/4
7-150667210-C-T KCNH2 c.307+4589G>A - IntronicSNV - 2/14
6-142679572-G-A ADGRG6 c.104-9134G>A - IntronicSNV - 2/24
1-172346548-G-A DNM3 c.1894-1610G>A - IntronicSNV - 17/20
21-45647421-T-C ICOSLG c.*1496A>G - 3-UTRSNV 7/7 -
6-160668389-A-G SLC22A2 c.843-59T>C - IntronicSNV - 4/10
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
11-18323517-T-C HPS5 c.897-1054A>G - IntronicSNV - 8/22
1-8021973-G-T PARK7 c.-24+120G>T - intron_variant - 1/6
17-44828931-G-A NSF c.2106G>A p.Lys702Lys Synonymous 19/21 -
12-123823546-A-G SBNO1 c.648+1989T>C - IntronicSNV - 5/31
11-8252853-A-G LMO1 c.26-802T>C - IntronicSNV - 1/3
11-128380974-C-T ETS1 c.82+10834G>A - IntronicSNV - 1/7
5-102596720-C-T C5orf30 c.-114+2123C>T - intron_variant - 1/2
6-32409530-G-A HLA-DRA c.83-695G>A - IntronicSNV - 1/4
1-154814353-C-T KCNN3 c.934-19693G>A - IntronicSNV - 1/7
4-145643079-G-A HHIP c.1760+2971G>A - IntronicSNV - 11/12
11-14910234-A-G CYP2R1 c.226-2771T>C - IntronicSNV - 1/4
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
5-131973177-A-G RAD50 c.3475+285A>G - IntronicSNV - 22/24
2-233155110-T-C DIS3L2 c.1660-9640T>C - IntronicSNV - 13/20
3-141105570-A-G ZBTB38 c.-416-144A>G - intron_variant - 4/7
6-90958231-C-G BACH2 c.-275+4001G>C - intron_variant - 3/8
6-151933175-A-G CCDC170 c.1711-3403A>G - IntronicSNV - 9/10
10-6098824-T-C IL2RA c.64+5227A>G - IntronicSNV - 1/7
17-2143460-G-T SMG6 c.1-3530C>A - IntronicSNV - 2/11
6-25870542-T-A SLC17A3 c.1-1927A>T - IntronicSNV - 1/12
3-141102833-G-A ZBTB38 c.-417+2504G>A - intron_variant - 4/7
1-119503843-C-G TBX15 c.-114+28135G>C - intron_variant - 1/7
1-119503843-C-A TBX15 c.-114+28135G>T - intron_variant - 1/7
9-77499796-T-C TRPM6 c.33+2944A>G - IntronicSNV - 1/38
3-16955259-G-A PLCL2 c.327+28394G>A - intron_variant - 4/8
10-81058027-A-C ZMIZ1 c.1492-136A>C - IntronicSNV - 14/24
10-81058027-A-G ZMIZ1 c.1492-136A>G - IntronicSNV - 14/24
8-135637337-C-G ZFAT c.412+12367G>C - IntronicSNV - 4/16
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
7-23502974-T-A IGF2BP3 c.236+5127A>T - IntronicSNV - 2/14
9-109632353-G-A ZNF462 c.-31+6717G>A - intron_variant - 1/12
12-122365583-C-T WDR66 c.747+3687C>T - IntronicSNV - 3/21
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
14-74990746-A-G LTBP2 c.2530+1081T>C - IntronicSNV - 15/35
6-31914180-G-T CFB c.95G>T p.Arg32Leu Missense 2/18 -
1-67675516-C-T IL23R c.798+2778C>T - IntronicSNV - 6/10
10-71093392-C-T HK1 c.64-10191C>T - IntronicSNV - 1/17
2-61224259-C-T PUS10 c.468+9433G>A - IntronicSNV - 4/17
3-169100899-G-C MECOM c.38-1587C>G - IntronicSNV - 1/16
3-169100899-G-A MECOM c.38-1587C>T - IntronicSNV - 1/16
21-37833307-C-A CLDN14 c.687G>T p.Thr229Thr Synonymous 3/3 -
21-37833307-C-T CLDN14 c.687G>A p.Thr229Thr Synonymous 3/3 -
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
12-14653867-C-T ATF7IP c.*2860C>T - IntergenicSNV 15/15 -
16-304803-A-T FAM234A c.268+123A>T - IntronicSNV - 3/12
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
15-78908032-A-G CHRNA3 c.377+1334T>C - IntronicSNV - 4/5
1-169995802-C-T KIFAP3 c.842-2065G>A - IntronicSNV - 8/19
1-169995802-C-A KIFAP3 c.842-2065G>T - IntronicSNV - 8/19
17-59483766-C-T TBX2 c.1686+569C>T - IntronicSNV - 6/6
9-139266405-G-A CARD9 c.126C>T p.Pro42Pro Synonymous 2/13 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
15-78789488-C-T IREB2 c.2616C>T p.Ala872Ala Synonymous 21/22 -
6-31906010-G-A C2 c.1129+774G>A - IntronicSNV - 8/17
9-136323754-A-G ADAMTS13 c.4078-342A>G - IntronicSNV - 28/28
3-141094209-G-A ZBTB38 c.-480+5421G>A - intron_variant - 3/7
6-32050067-T-G TNXB c.3482A>C p.His1161Pro Missense 9/44 -
4-145574844-A-G HHIP c.472+895A>G - IntronicSNV - 2/12
16-73029160-T-A ZFHX3 c.1-35116A>T - IntronicSNV - 1/9
14-23861811-A-G MYH6 c.3302T>C p.Val1101Ala Missense 25/39 -
19-49228272-T-C RASIP1 c.2128-55A>G - IntronicSNV - 8/11
6-167534290-G-A CCR6 c.-98+8788G>A - intron_variant - 1/2
17-43216281-C-T ACBD4 c.650-107C>T - IntronicSNV - 7/8
15-76158983-G-T UBE2Q2 c.388-2309G>T - IntronicSNV - 3/12
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
19-10397238-C-T ICAM1 c.*1275C>T - 3-UTRSNV 7/7 -
5-131973177-A-T RAD50 c.3475+285A>T - IntronicSNV - 22/24
6-32408527-C-T HLA-DRA c.82+718C>T - IntronicSNV - 1/4
6-32408527-C-G HLA-DRA c.82+718C>G - IntronicSNV - 1/4
11-64334114-C-T SLC22A11 c.1059-957C>T - IntronicSNV - 6/9
1-112192122-T-C RAP1A c.-28+29566T>C - intron_variant - 1/7
10-35554054-T-C CCNY c.-9+14500T>C - intron_variant - 3/11
10-35554054-T-G CCNY c.-9+14500T>G - intron_variant - 3/11
7-72971231-C-T BCL7B c.92+586G>A - IntronicSNV - 1/5
2-204802578-T-C ICOS c.58+983T>C - IntronicSNV - 1/4
6-160962503-T-C LPA c.5520-290A>G - IntronicSNV - 34/38
2-234180410-A-G ATG16L1 c.708-1202A>G - IntronicSNV - 6/16
8-19819328-T-C LPL c.1323-298T>C - IntronicSNV - 8/9
1-19765518-T-G CAPZB c.4-19274A>C - IntronicSNV - 1/9
2-198896895-A-G PLCL1 c.241-51587A>G - IntronicSNV - 1/5
3-50093209-G-A RBM6 c.1693+1381G>A - IntronicSNV - 8/20
22-50435480-A-G IL17REL c.998T>C p.Leu333Pro Missense 14/15 -
1-61873677-T-G NFIA c.1420+1278T>G - IntronicSNV - 9/9
7-128617466-A-C TNPO3 c.2062-1477T>G - IntronicSNV - 16/22
7-128617466-A-G TNPO3 c.2062-1477T>C - IntronicSNV - 16/22
6-90926612-C-A BACH2 c.-274-10212G>T - intron_variant - 3/8
1-167411384-A-G CD247 c.59-1380T>C - IntronicSNV - 1/7
16-11238783-G-A CLEC16A c.2641+18780G>A - IntronicSNV - 22/23
12-57809456-C-T R3HDM2 c.-106+15047G>A - intron_variant - 1/23
1-154418879-C-T IL6R c.950-1722C>T - IntronicSNV - 6/9
7-28185091-A-G JAZF1 c.115+34991T>C - IntronicSNV - 1/4
12-111910219-A-G ATXN2 c.2519-1673T>C - intron_variant - 18/24
19-50926742-A-G SPIB c.340-120A>G - IntronicSNV - 4/5
20-33975181-C-A UQCC1 c.130-3245G>T - IntronicSNV - 2/9
1-41530871-T-C SCMH1 c.1075+5396A>G - IntronicSNV - 10/15
1-162210610-C-A NOS1AP c.178-46524C>A - IntronicSNV - 2/9
2-61217542-T-C PUS10 c.468+16150A>G - IntronicSNV - 4/17
2-61217542-T-A PUS10 c.468+16150A>T - IntronicSNV - 4/17
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
4-858332-C-T GAK c.3166+578G>A - IntronicSNV - 23/27
1-247601595-T-C NLRP3 c.2669+2153T>C - IntronicSNV - 6/8
1-160852046-T-C ITLN1 c.158-52A>G - IntronicSNV - 3/7
3-188112554-C-A LPP c.1-11355C>A - IntronicSNV - 2/10
6-118578043-G-A SLC35F1 c.478-10115G>A - IntronicSNV - 3/7
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
1-116310967-T-C CASQ2 c.196A>G p.Thr66Ala Missense 1/11 -
19-41310571-A-G EGLN2 c.844-1889A>G - IntronicSNV - 2/5
8-27456253-T-C CLU c.1165-101A>G - IntronicSNV - 7/8
3-188112554-C-T LPP c.1-11355C>T - IntronicSNV - 2/10
19-10472933-A-C TYK2 c.1669+7T>G - IntronicSNV - 11/24
5-96129512-A-T ERAP1 c.1068T>A p.Ala356Ala Synonymous 6/20 -
6-47453378-G-C CD2AP c.4+7394G>C - IntronicSNV - 1/17
19-3428834-G-A NFIC c.634+3659G>A - IntronicSNV - 3/8
9-98259703-T-G PTCH1 c.394+8986A>C - IntronicSNV - 2/23
3-49701983-G-A BSN c.11736G>A p.Thr3912Thr Synonymous 9/12 -
15-60894965-C-T RORA c.197-70915G>A - IntronicSNV - 2/10
6-33540692-T-C BAK1 c.*888A>G - 3-UTRSNV 6/6 -
14-88472595-C-T GPR65 c.-460+1029C>T - intron_variant - 1/1
17-59456589-C-T BCAS3 c.2593+10734C>T - IntronicSNV - 23/23
1-2526746-A-G MMEL1 c.1553T>C p.Met518Thr Missense 16/24 -
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
6-20688121-T-G CDKAL1 c.371+38513T>G - IntronicSNV - 5/15
15-79080234-C-T ADAMTS7 c.1322+339G>A - IntronicSNV - 8/23
3-38767315-T-C SCN10A c.3088-510A>G - IntronicSNV - 16/26
1-197727642-A-T DENND1B c.82+14356T>A - IntronicSNV - 2/15
16-53845487-C-A FTO c.123+1358C>A - IntronicSNV - 2/8
16-53845487-C-G FTO c.123+1358C>G - IntronicSNV - 2/8
13-72347696-A-C DACH1 c.855-91654T>G - IntronicSNV - 1/6
20-1610551-T-C SIRPG c.*3-269A>G - intron_variant - 5/5
10-81060317-C-A ZMIZ1 c.1809-172C>A - IntronicSNV - 16/24
1-25570081-T-C RSRP1 c.716A>G p.Glu239Gly Missense 4/5 -
5-168256240-G-A SLIT3 c.558-5904C>T - IntronicSNV - 6/35
7-50428428-C-T IKZF1 c.161-15803C>T - intron_variant - 3/7
16-11187783-G-A CLEC16A c.2117-26689G>A - IntronicSNV - 19/23
16-73029160-T-C ZFHX3 c.1-35116A>G - IntronicSNV - 1/9
2-88895351-T-C EIF2AK3 c.439-170A>G - IntronicSNV - 2/16
2-31464829-A-G EHD3 c.228-2311A>G - IntronicSNV - 1/5
21-35880072-G-A KCNE1 c.-162+3327C>T - intron_variant - 2/3
4-145650021-G-A HHIP c.1761-5872G>A - IntronicSNV - 11/12
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
3-195800547-C-A TFRC c.434+254G>T - IntronicSNV - 4/18
6-151936677-G-A CCDC170 c.1810G>A p.Val604Ile Missense 10/11 -
6-105407662-A-C LIN28B c.198+1501A>C - IntronicSNV - 2/3
6-105407662-A-T LIN28B c.198+1501A>T - IntronicSNV - 2/3
1-20227723-G-T OTUD3 c.607-3037G>T - IntronicSNV - 4/7
1-20227723-G-C OTUD3 c.607-3037G>C - IntronicSNV - 4/7
12-9910164-G-A CD69 c.65-1149C>T - IntronicSNV - 1/4
22-37470224-T-C TMPRSS6 c.1468+426A>G - IntronicSNV - 12/17
3-133494354-C-T TF c.1765C>T p.Pro589Ser Missense 15/17 -
11-108283161-C-A C11orf65 c.175-5285G>T - IntronicSNV - 3/8
1-207803595-G-A CR1 c.6003-267G>A - IntronicSNV - 37/38
12-125320850-C-T SCARB1 c.127-18597G>A - IntronicSNV - 1/12
2-191902758-G-A STAT4 c.1434+1167C>T - IntronicSNV - 16/23
6-111696091-T-C REV3L c.3467A>G p.Tyr1156Cys Missense 14/33 -
6-32050067-T-C TNXB c.3482A>G p.His1161Arg Missense 9/44 -
6-32050067-T-A TNXB c.3482A>T p.His1161Leu Missense 9/44 -
11-2484803-T-C KCNQ1 c.386+18089T>C - IntronicSNV - 1/15
11-2484803-T-A KCNQ1 c.386+18089T>A - IntronicSNV - 1/15
2-163260691-T-C KCNH7 c.2155-3740A>G - IntronicSNV - 9/15
2-46360907-G-C PRKCE c.1593-11325G>C - IntronicSNV - 11/14
1-171949750-T-C DNM3 c.236-7046T>C - IntronicSNV - 2/20
11-18419806-A-G LDHA c.127-1172A>G - IntronicSNV - 2/7
4-17944840-G-A LCORL c.430+18686C>T - IntronicSNV - 4/6
19-10469975-A-G TYK2 c.2051T>C p.Ile684Thr Missense 15/25 -
17-59286644-G-C BCAS3 c.2425+124719G>C - IntronicSNV - 22/23
4-77412140-G-A SHROOM3 c.168+54767G>A - IntronicSNV - 1/10
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
12-349298-C-T SLC6A13 c.479-2122G>A - IntronicSNV - 4/14
12-56737973-A-G STAT2 c.2103-54T>C - IntronicSNV - 22/23
14-72057355-G-A SIPA1L1 c.1498+1268G>A - IntronicSNV - 7/26
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
12-121442670-T-A C12orf43 c.452+136A>T - IntronicSNV - 5/5
12-121442670-T-C C12orf43 c.452+136A>G - IntronicSNV - 5/5
20-33730387-C-T EDEM2 c.259-106G>A - IntronicSNV - 3/10
6-147680359-A-G STXBP5 c.2445A>G p.Leu815Leu Synonymous 23/28 -
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
X-153554404-C-G TKTL1 c.1401+636C>G - IntronicSNV - 10/12
1-172189889-T-G DNM3 c.1660-32824T>G - IntronicSNV - 14/20
6-3433318-T-G SLC22A23 c.-434-746A>C - intron_variant - 1/10
6-33706479-C-T IP6K3 c.1-3226G>A - IntronicSNV - 1/5
11-128380974-C-A ETS1 c.82+10834G>T - IntronicSNV - 1/7
7-28196222-A-G JAZF1 c.115+23860T>C - IntronicSNV - 1/4
6-138199417-G-T TNFAIP3 c.987-152G>T - IntronicSNV - 6/8
5-10752315-C-T DAP c.56-3932G>A - IntronicSNV - 1/3
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
20-5935385-T-C MCM8 c.336+49T>C - IntronicSNV - 4/18
12-58162739-A-G METTL1 c.*40T>C - 3-UTRSNV 6/6 -
3-52506426-C-T NISCH c.669+12C>T - IntronicSNV - 6/20
22-37467392-G-C TMPRSS6 c.1583-320C>G - IntronicSNV - 13/17
20-14747471-T-C MACROD2 c.418+81866T>C - IntronicSNV - 5/16
6-20728731-T-C CDKAL1 c.372-11019T>C - IntronicSNV - 5/15
11-78095373-C-T GAB2 c.75+33319G>A - IntronicSNV - 1/9
11-78095373-C-A GAB2 c.75+33319G>T - IntronicSNV - 1/9
1-206943968-C-A IL10 c.378+284G>T - IntronicSNV - 3/4
2-234184417-G-A ATG16L1 c.897+993G>A - IntronicSNV - 8/16
15-84582124-G-T ADAMTSL3 c.1981G>T p.Val661Leu Missense 16/30 -
7-100345106-G-A ZAN c.932-67G>A - IntronicSNV - 8/48
7-100345106-G-C ZAN c.932-67G>C - IntronicSNV - 8/48
10-121429633-T-C BAG3 c.451T>C p.Cys151Arg Missense 2/4 -
6-31930462-G-A SKIV2L c.1212-29G>A - IntronicSNV - 11/27
19-33453659-T-A CEP89 c.147-2695A>T - IntronicSNV - 2/18
4-90678541-G-T SNCA c.307-28113C>A - IntronicSNV - 4/5
17-73888672-T-G TRIM65 c.511-91A>C - IntronicSNV - 2/5
17-73888672-T-C TRIM65 c.511-91A>G - IntronicSNV - 2/5
4-90678541-G-A SNCA c.307-28113C>T - IntronicSNV - 4/5
4-858332-C-G GAK c.3166+578G>C - IntronicSNV - 23/27
1-158612548-T-C SPTA1 c.4605+56A>G - IntronicSNV - 32/51
1-158612548-T-A SPTA1 c.4605+56A>T - IntronicSNV - 32/51
1-67694202-A-G IL23R c.956-8194A>G - IntronicSNV - 7/10
1-67694202-A-T IL23R c.956-8194A>T - IntronicSNV - 7/10
3-123096820-T-C ADCY5 c.1135-25392A>G - IntronicSNV - 1/20
3-123096820-T-A ADCY5 c.1135-25392A>T - IntronicSNV - 1/20
17-33324382-C-T LIG3 c.1824-375C>T - IntronicSNV - 11/19
7-150667210-C-A KCNH2 c.307+4589G>T - IntronicSNV - 2/14
17-2125605-G-A SMG6 c.145+14181C>T - IntronicSNV - 3/11
8-27468862-C-G CLU c.1-774G>C - IntronicSNV - 1/8
2-103054449-G-A IL18RAP c.730+627G>A - IntronicSNV - 6/11
1-67702526-T-G IL23R c.1045+41T>G - IntronicSNV - 8/10
15-63341996-T-C TPM1 c.240+5645T>C - IntronicSNV - 2/8
15-63341996-T-G TPM1 c.240+5645T>G - IntronicSNV - 2/8
2-68598955-T-C PLEK c.42+6430T>C - IntronicSNV - 1/8
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
2-60720246-C-T BCL11A c.386-24278G>A - IntronicSNV - 2/3
2-68598955-T-A PLEK c.42+6430T>A - IntronicSNV - 1/8
8-110115676-C-T TRHR c.789+15146C>T - IntronicSNV - 2/2
3-119118796-T-G ARHGAP31 c.1069+688T>G - IntronicSNV - 9/11
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
20-33171772-G-C PIGU c.926+1469C>G - IntronicSNV - 9/11
2-56592083-A-G CCDC85A c.1318-7396A>G - IntronicSNV - 3/5
2-218683154-A-T TNS1 c.3589T>A p.Trp1197Arg Missense 24/33 -
2-218683154-A-G TNS1 c.3589T>C p.Trp1197Arg Missense 24/33 -
3-49719729-G-A APEH c.1604-52G>A - IntronicSNV - 17/21
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
16-50756881-A-G NOD2 c.2798+265A>G - IntronicSNV - 8/11
3-172165727-C-T GHSR c.477G>A p.Arg159Arg Synonymous 1/1 -
14-79936964-T-C NRXN3 c.429+3219T>C - IntronicSNV - 2/6
11-118477367-A-G PHLDB1 c.-199A>G - 5_prime_UTR_variant 1/24 -
11-118477367-A-T PHLDB1 c.-199A>T - 5_prime_UTR_variant 1/24 -
1-162085685-G-T NOS1AP c.106-38510G>T - IntronicSNV - 1/9
16-53769677-G-A FTO c.45+31536G>A - IntronicSNV - 1/8
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
7-92264410-T-C CDK6 c.648-12010A>G - IntronicSNV - 5/7
12-114793240-C-G TBX5 c.*97G>C - 3-UTRSNV 8/8 -
1-196679455-A-C CFH c.1337-3410A>C - IntronicSNV - 9/21
16-50756774-C-G NOD2 c.2798+158C>G - IntronicSNV - 8/11
18-12821593-A-G PTPN2 c.495+4216T>C - IntronicSNV - 5/8
2-36673555-T-G CRIM1 c.869+3677T>G - IntronicSNV - 4/16
6-160668389-A-T SLC22A2 c.843-59T>A - IntronicSNV - 4/10
22-30529631-C-A HORMAD2 c.819+11428C>A - IntronicSNV - 10/10
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
3-186570453-G-A ADIPOQ c.1-395G>A - IntronicSNV - 1/2
11-71194559-G-A NADSYN1 c.1319+496G>A - IntronicSNV - 14/20
9-114293634-A-G ZNF483 c.501+391A>G - IntronicSNV - 3/5
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
1-167420425-T-G CD247 c.59-10421A>C - IntronicSNV - 1/7
1-162210610-C-G NOS1AP c.178-46524C>G - IntronicSNV - 2/9
2-231116874-C-T SP140 c.1057+1098C>T - IntronicSNV - 10/26
1-162210610-C-T NOS1AP c.178-46524C>T - IntronicSNV - 2/9
5-1342714-C-A CLPTM1L c.264-739G>T - IntronicSNV - 2/16
2-102957716-C-T IL1RL1 c.610+428C>T - IntronicSNV - 5/10
13-33693837-C-T STARD13 c.2059-1459G>A - IntronicSNV - 7/7
2-25492467-A-G DNMT3A c.639+5343T>C - IntronicSNV - 6/22
12-66358347-C-T HMGA2 c.*1275C>T - 3-UTRSNV 5/5 -
6-159465303-T-C TAGAP c.1-125A>G - IntronicSNV 1/10 -
11-18323517-T-A HPS5 c.897-1054A>T - IntronicSNV - 8/22
4-84374480-C-T HELQ c.916G>A p.Val306Ile Missense 2/18 -
18-53155002-A-C TCF4 c.146-23634T>G - IntronicSNV - 3/19
11-60760612-C-A CD6 c.50-13434C>A - IntronicSNV - 1/12
6-25821770-C-T SLC17A1 c.208-1627G>A - IntronicSNV - 3/12
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
9-133464084-A-G FUBP3 c.85-6786A>G - IntronicSNV - 1/18
2-61204856-A-G PUS10 c.469-6164T>C - IntronicSNV - 4/17
4-9922167-C-T SLC2A9 c.757G>A p.Val253Ile Missense 8/13 -
9-4856877-G-A RCL1 c.972-3248G>A - IntronicSNV - 8/8
2-215635794-T-C BARD1 c.1315-1758A>G - IntronicSNV - 4/10
2-191538562-C-G NAB1 c.1005+684C>G - IntronicSNV - 6/9
2-191538562-C-A NAB1 c.1005+684C>A - IntronicSNV - 6/9
20-33914208-A-G UQCC1 c.574-11640T>C - IntronicSNV - 7/9
12-112521448-G-A NAA25 c.403-2510C>T - IntronicSNV - 4/23
3-133484029-G-A TF c.1330+278G>A - IntronicSNV - 11/16
4-100341861-C-T ADH7 c.690G>A p.Arg230Arg Synonymous 6/9 -
17-44081064-A-G MAPT c.1774-6612A>G - IntronicSNV - 10/13
9-136142203-A-T ABO c.29-4632T>A - IntronicSNV - 1/7
19-10472933-A-G TYK2 c.1669+7T>C - IntronicSNV - 11/24
7-28189411-T-C JAZF1 c.115+30671A>G - IntronicSNV - 1/4
10-6102012-C-T IL2RA c.64+2039G>A - IntronicSNV - 1/7
11-60760612-C-G CD6 c.50-13434C>G - IntronicSNV - 1/12
3-49210732-A-C KLHDC8B c.376+154A>C - IntronicSNV - 2/5
2-128177377-C-T PROC c.1-142C>T - IntronicSNV - 1/8
5-55438580-C-A ANKRD55 c.612+1048G>T - IntronicSNV - 7/11
2-44073656-T-C ABCG8 c.322+206T>C - IntronicSNV - 3/12
11-64129722-G-A RPS6KA4 c.906+248G>A - IntronicSNV - 8/16
9-136142203-A-C ABO c.29-4632T>G - IntronicSNV - 1/7
2-46353166-A-G PRKCE c.1593-19066A>G - IntronicSNV - 11/14
5-96129512-A-G ERAP1 c.1068T>C p.Ala356Ala Synonymous 6/20 -
9-95429120-A-C IPPK c.81+3070T>G - IntronicSNV - 1/12
6-20688121-T-A CDKAL1 c.371+38513T>A - IntronicSNV - 5/15
21-38491095-A-G TTC3 c.901-3022A>G - IntronicSNV - 11/45
21-38491095-A-T TTC3 c.901-3022A>T - IntronicSNV - 11/45
18-42439886-C-T SETBP1 c.487-9309C>T - IntronicSNV - 2/3
6-142750516-A-G ADGRG6 c.3236-8055A>G - IntronicSNV - 21/24
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
3-53282303-A-G TKT c.108-6045T>C - IntronicSNV - 1/13
19-47208481-T-C PRKD2 c.512-575A>G - IntronicSNV - 3/17
1-207786289-A-G CR1 c.5225+903A>G - IntronicSNV - 31/38
1-207786289-A-T CR1 c.5225+903A>T - IntronicSNV - 31/38