PMID: 20346360

Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

Gastroenterology
KE Roberts, SM Kawut, MJ Krowka, RS Brown, JF Trotter, V Shah, I Peter, H Tighiouart, N Mitra, E Handorf, JA Knowles, S Zacks, MB Fallon,
2010-07

1048 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-117821026-A-G TNC c.4306+983T>C - IntronicSNV - 14/27
12-6159045-C-T VWF c.2186+2664G>A - IntronicSNV - 16/51
17-26111428-G-A NOS2 c.468-1296C>T - IntronicSNV - 5/26
10-88606951-C-T BMPR1A c.-153+8215C>T - intron_variant - 2/12
6-161133651-G-A PLG c.408-367G>A - IntronicSNV - 4/18
6-161152449-G-A PLG c.1438+185G>A - IntronicSNV - 11/18
12-6172202-T-A VWF c.1451A>T p.His484Leu Missense 13/52 -
12-6172202-T-C VWF c.1451A>G p.His484Arg Missense 13/52 -
17-64411414-T-G PRKCA c.206-80905T>G - IntronicSNV - 2/16
17-64411414-T-C PRKCA c.206-80905T>C - IntronicSNV - 2/16
15-39887649-C-T THBS1 c.*79C>T - 3-UTRSNV 22/22 -
8-108456805-T-C ANGPT1 c.297+52685A>G - IntronicSNV - 1/8
18-45369857-A-G SMAD2 c.1281-1536T>C - IntronicSNV - 10/10
2-231990100-A-T PSMD1 c.1884-13350A>T - IntronicSNV - 16/23
2-231990100-A-C PSMD1 c.1884-13350A>C - IntronicSNV - 16/23
3-8779066-T-C CAV3 c.114+3390T>C - IntronicSNV - 1/1
3-25579202-C-G RARB c.449-32047C>G - IntronicSNV - 3/7
11-102708787-G-A MMP3 c.1229+495C>T - IntronicSNV - 8/9
16-24006787-A-G PRKCB c.288+6876A>G - IntronicSNV - 3/16
2-31581439-C-T XDH c.2631+5585G>A - IntronicSNV - 24/35
15-67419013-T-C SMAD3 c.207-38220T>C - IntronicSNV - 1/8
2-231980019-C-T HTR2B c.353-1376G>A - IntronicSNV - 2/3
11-101411975-G-T TRPC6 c.171-36446C>A - IntronicSNV - 1/12
12-6222087-C-A VWF c.221-1953G>T - IntronicSNV - 3/51
11-89181108-A-G NOX4 c.349+1500T>C - IntronicSNV - 4/17
19-41864509-T-A B9D2 c.89-582A>T - IntronicSNV - 2/3
4-148440625-G-A EDNRA c.421-16404G>A - IntronicSNV - 2/5
13-103715317-A-C SLC10A2 c.377+2906T>G - IntronicSNV - 1/5
17-61560763-T-C ACE c.1488-58T>C - IntronicSNV - 9/24
15-67447895-A-T SMAD3 c.207-9338A>T - IntronicSNV - 1/8
15-67447895-A-G SMAD3 c.207-9338A>G - IntronicSNV - 1/8
3-25517208-C-T RARB c.306+14376C>T - IntronicSNV - 2/7
4-148445429-A-C EDNRA c.421-11600A>C - IntronicSNV - 2/5
15-51609714-A-G CYP19A1 c.-39+20978T>C - intron_variant - 1/9
15-67483979-G-A SMAD3 c.*1105G>A - 3-UTRSNV 9/9 -
13-78475230-C-T EDNRB c.914G>A p.Ser305Asn Missense 5/8 -
18-45363289-A-G SMAD2 c.*4909T>C - 3-UTRSNV 11/11 -
12-53605344-T-C RARG c.*116A>G - 3-UTRSNV 10/10 -
3-25543870-A-T RARB c.448+1056A>T - IntronicSNV - 3/7
3-119518898-C-T NR1I2 c.1-7200C>T - IntronicSNV - 1/8
3-119530858-G-A NR1I2 c.519+285G>A - IntronicSNV - 4/8
21-46886710-C-A COL18A1 c.647-1446C>A - IntronicSNV - 1/40
2-31636915-A-G XDH c.42+576T>C - IntronicSNV - 1/35
11-89123768-C-T NOX4 c.1074+9417G>A - IntronicSNV - 11/17
2-31559095-G-C XDH c.3952-221C>G - IntronicSNV - 35/35
9-117840922-A-G TNC c.2405-431T>C - IntronicSNV - 6/27
12-51737607-G-A CELA1 c.130C>T p.Arg44Trp Missense 3/8 -
18-45394206-T-G SMAD2 c.655+488A>C - IntronicSNV - 5/10
15-51532647-T-C CYP19A1 c.145+2318A>G - IntronicSNV - 2/9
12-51722311-C-T CELA1 c.*50G>A - 3-UTRSNV 8/8 -
9-117856318-C-A TNC c.1-3021G>T - IntronicSNV - 1/27
11-101436882-C-T TRPC6 c.170+17183G>A - IntronicSNV - 1/12
12-6105387-G-A VWF c.5844C>T p.Cys1948Cys Synonymous 35/52 -
17-64424250-G-A PRKCA c.206-68069G>A - IntronicSNV - 2/16
11-89223682-T-G NOX4 c.97A>C p.Thr33Pro Missense 2/18 -
3-119536718-C-T NR1I2 c.*659C>T - 3-UTRSNV 9/9 -
17-26095378-C-T NOS2 c.2035-515G>A - IntronicSNV - 17/26
2-231988855-A-G HTR2B c.1-377T>C - IntronicSNV - 1/3
1-21600677-G-A ECE1 c.281-1273C>T - IntronicSNV - 3/18
22-46598307-A-G PPARA c.208+3819A>G - IntronicSNV - 3/7
7-150706640-G-A NOS3 c.2479G>A p.Val827Met Missense 20/27 -
21-36206882-T-A RUNX1 c.549A>T p.Leu183Leu Synonymous 4/6 -
13-103712309-T-C SLC10A2 c.378-1577A>G - IntronicSNV - 1/5
6-152130918-A-G ESR1 c.452+1419A>G - IntronicSNV - 1/7
12-69926704-G-A FRS2 c.-190+868G>A - intron_variant - 3/9
14-70261665-C-T SLC10A1 c.356+1852G>A - IntronicSNV - 1/4
4-103518700-A-G NFKB1 c.1519A>G p.Met507Val Missense 15/24 -
20-43804314-A-T PI3 c.80-188A>T - IntronicSNV - 1/2
13-78470350-A-G EDNRB c.*1985T>C - 3-UTRSNV 8/8 -
9-130581723-A-T ENG c.1311+178T>A - IntronicSNV - 10/13
17-64307982-C-T PRKCA c.205+5737C>T - IntronicSNV - 2/16
8-108505219-T-C ANGPT1 c.297+4271A>G - IntronicSNV - 1/8
X-138617528-G-A F9 c.89-1641G>A - IntronicSNV - 1/7
10-88602314-T-G BMPR1A c.-153+3578T>G - intron_variant - 2/12
3-25540391-T-C RARB c.307-2282T>C - IntronicSNV - 2/7
7-50450420-T-C IKZF1 c.589+15T>C - intron_variant - 5/7
7-50450420-T-A IKZF1 c.589+15T>A - intron_variant - 5/7
21-46912386-C-G COL18A1 c.2698-63C>G - IntronicSNV - 21/40
14-105246407-G-A AKT1 c.175+18C>T - IntronicSNV - 3/13
14-105246407-G-C AKT1 c.175+18C>G - IntronicSNV - 3/13
4-148429750-C-T EDNRA c.420+22497C>T - IntronicSNV - 2/5
14-64703593-G-T ESR2 c.1226-1725C>A - IntronicSNV - 7/8
3-12397392-A-G PPARG c.1-23813A>G - IntronicSNV - 1/6
10-88532510-T-C BMPR1A c.-268+15834T>C - intron_variant - 1/12
11-102710471-C-T MMP3 c.935+368G>A - IntronicSNV - 6/9
14-62171426-A-C HIF1A c.35+8869A>C - IntronicSNV - 1/14
14-62171426-A-T HIF1A c.35+8869A>T - IntronicSNV - 1/14
3-12445807-C-A PPARG c.536-1574C>A - IntronicSNV - 4/6
15-51529112-T-C CYP19A1 c.240A>G p.Val80Val Synonymous 3/10 -
12-6146630-G-C VWF c.2443-973C>G - IntronicSNV - 18/51
12-6146630-G-A VWF c.2443-973C>T - IntronicSNV - 18/51
14-64695087-A-G ESR2 c.1407-755T>C - IntronicSNV - 8/8
3-25554363-G-T RARB c.448+11549G>T - IntronicSNV - 3/7
9-130598125-G-A ENG c.220-6019C>T - IntronicSNV - 2/13
11-101359111-T-G TRPC6 c.1293+557A>C - IntronicSNV - 4/12
17-64806716-C-T PRKCA c.*6561C>T - 3-UTRSNV 17/17 -
9-130581723-A-G ENG c.1311+178T>C - IntronicSNV - 10/13
21-46912386-C-A COL18A1 c.2698-63C>A - IntronicSNV - 21/40
20-48180058-A-T PTGIS c.74+4522T>A - IntronicSNV - 1/9
20-48180058-A-G PTGIS c.74+4522T>C - IntronicSNV - 1/9
15-39873321-T-C THBS1 c.-138T>C - 5_prime_UTR_variant 1/22 -
3-12338849-A-G PPARG c.-3+9330A>G - intron_variant - 1/6
21-36259354-G-A RUNX1 c.56C>T p.Ala19Val Missense 1/6 -
3-8775661-C-T CAV3 c.99C>T p.Asn33Asn Synonymous 1/2 -
3-25548731-G-A RARB c.448+5917G>A - IntronicSNV - 3/7
11-18046493-A-T TPH1 c.930+629T>A - IntronicSNV - 8/10
9-21973422-G-T CDKN2A c.150+1255C>A - IntronicSNV - 1/2
9-21973422-G-A CDKN2A c.150+1255C>T - IntronicSNV - 1/2
14-62206548-C-A HIF1A c.1537-675C>A - IntronicSNV - 10/14
9-117844771-G-A TNC c.2247+200C>T - IntronicSNV - 5/27
9-117844771-G-C TNC c.2247+200C>G - IntronicSNV - 5/27
16-24043676-C-G PRKCB c.400+108C>G - IntronicSNV - 4/16
15-51534547-C-T CYP19A1 c.145+418G>A - IntronicSNV - 2/9
15-51534547-C-A CYP19A1 c.145+418G>T - IntronicSNV - 2/9
6-161136485-G-A PLG c.668+539G>A - IntronicSNV - 6/18
14-64747170-A-G ESR2 c.363-299T>C - IntronicSNV - 2/8
6-31947594-G-C STK19 c.803+264G>C - IntronicSNV - 5/7
20-48177974-G-T PTGIS c.74+6606C>A - IntronicSNV - 1/9
10-48412337-A-C GDF2 c.*1241T>G - IntergenicSNV 2/2 -
16-24166448-G-C PRKCB c.1239+270G>C - IntronicSNV - 10/16
21-46912386-C-T COL18A1 c.2698-63C>T - IntronicSNV - 21/40
10-88635438-A-G BMPR1A c.1-338A>G - IntronicSNV - 2/12
3-8779398-A-C CAV3 c.114+3722A>C - IntronicSNV - 1/1
10-88536910-A-G BMPR1A c.-268+20234A>G - intron_variant - 1/12
17-26100321-A-C NOS2 c.1477-52T>G - IntronicSNV - 12/26
2-203292344-T-C BMPR2 c.77-37188T>C - IntronicSNV - 1/12
6-12293221-G-A EDN1 c.233+479G>A - IntronicSNV - 2/4
16-55516708-T-G MMP2 c.4-113T>G - IntronicSNV - 1/12
16-55516708-T-A MMP2 c.4-113T>A - IntronicSNV - 1/12
17-38504241-A-G RARA c.179-327A>G - IntronicSNV - 2/8
16-24043676-C-T PRKCB c.400+108C>T - IntronicSNV - 4/16
11-101382967-C-T TRPC6 c.171-7438G>A - IntronicSNV - 1/12
3-119509381-A-G NR1I2 c.-23+8234A>G - intron_variant - 1/8
21-36255821-T-G RUNX1 c.271-2811A>C - IntronicSNV - 1/5
2-31614082-A-T XDH c.496-2921T>A - IntronicSNV - 6/35
6-160098283-T-C SOD2 c.*5242A>G - IntergenicSNV 5/5 -
3-12466214-G-A PPARG c.1186+7561G>A - IntronicSNV - 6/6
16-55536687-A-G MMP2 c.1620-4A>G - IntronicSNV - 11/12
8-108366032-C-T ANGPT1 c.298-6707G>A - IntronicSNV - 1/8
2-31614082-A-G XDH c.496-2921T>C - IntronicSNV - 6/35
15-67460757-C-G SMAD3 c.607+1566C>G - IntronicSNV - 4/8
3-25578892-C-T RARB c.449-32357C>T - IntronicSNV - 3/7
6-152305505-C-T ESR1 c.1097-27286C>T - IntronicSNV - 4/7
11-101353289-C-T TRPC6 c.1510+391G>A - IntronicSNV - 5/12
21-36186319-G-A RUNX1 c.725-14560C>T - IntronicSNV - 4/5
15-67376000-C-T SMAD3 c.206+17302C>T - IntronicSNV - 1/8
2-231990667-G-A PSMD1 c.1884-12783G>A - IntronicSNV - 16/23
3-119533256-G-A NR1I2 c.795-570G>A - IntronicSNV - 5/8
19-54394965-T-A PRKCG c.567T>A p.Asn189Lys Missense 6/18 -
19-54394965-T-C PRKCG c.567T>C p.Asn189Asn Synonymous 6/18 -
18-45426635-C-T SMAD2 c.1-3508G>A - IntronicSNV - 1/10
8-108394096-G-A ANGPT1 c.298-34771C>T - IntronicSNV - 1/8
14-62200201-G-T HIF1A c.881-655G>T - IntronicSNV - 7/14
15-67449660-A-G SMAD3 c.207-7573A>G - IntronicSNV - 1/8
8-108449292-T-A ANGPT1 c.297+60198A>T - IntronicSNV - 1/8
12-6134231-C-G VWF c.3222+515G>C - IntronicSNV - 24/51
12-6081938-C-T VWF c.7438-1063G>A - IntronicSNV - 43/51
2-31624836-C-T XDH c.198-642G>A - IntronicSNV - 3/35
17-64671919-C-G PRKCA c.530-11310C>G - IntronicSNV - 5/16
13-78475313-T-C EDNRB c.831A>G p.Leu277Leu Synonymous 5/8 -
13-78475313-T-G EDNRB c.831A>C p.Leu277Leu Synonymous 5/8 -
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
12-6169027-T-C VWF c.1534-1817A>G - IntronicSNV - 13/51
14-64736660-G-A ESR2 c.536-1031C>T - IntronicSNV - 3/8
6-161139857-A-G PLG c.1083A>G p.Gln361Gln Synonymous 9/19 -
7-116147908-C-G CAV2 c.*1733C>G - 3-UTRSNV 3/3 -
14-64760611-C-A ESR2 c.-91+140G>T - intron_variant - 1/8
3-8775661-C-G CAV3 c.99C>G p.Asn33Lys Missense 1/2 -
7-116147908-C-T CAV2 c.*1733C>T - 3-UTRSNV 3/3 -
4-26408827-C-A RBPJ c.155+935C>A - IntronicSNV - 3/10
4-26408827-C-G RBPJ c.155+935C>G - IntronicSNV - 3/10
21-36164883-C-T RUNX1 c.911G>A p.Ser304Asn Missense 6/6 -
4-148407869-T-G EDNRA c.420+616T>G - IntronicSNV - 2/5
10-48412337-A-G GDF2 c.*1241T>C - IntergenicSNV 2/2 -
15-51500494-C-T CYP19A1 c.*2511G>A - 3-UTRSNV 10/10 -
17-64551815-C-G PRKCA c.288+59414C>G - IntronicSNV - 3/16
6-152399493-C-T ESR1 c.1370-16027C>T - IntronicSNV - 6/7
14-64719117-G-A ESR2 c.1092-2720C>T - IntronicSNV - 6/8
17-64526395-A-C PRKCA c.288+33994A>C - IntronicSNV - 3/16
10-88608226-T-A BMPR1A c.1-27550T>A - IntronicSNV - 1/12
10-104161967-T-C NFKB2 c.2579-42T>C - IntronicSNV - 22/22
6-31947594-G-A STK19 c.803+264G>A - IntronicSNV - 5/7
13-103712499-A-G SLC10A2 c.378-1767T>C - IntronicSNV - 1/5
15-67377490-T-C SMAD3 c.206+18792T>C - IntronicSNV - 1/8
12-72412220-A-G TPH2 c.1069-3959A>G - IntronicSNV - 8/10
17-7529902-G-A SAT2 c.376C>T p.Arg126Cys Missense 6/6 -
17-61566724-G-A ACE c.2641+231G>A - IntronicSNV - 17/24
12-6099849-C-A VWF c.6798+1136G>T - IntronicSNV - 38/51
20-44642406-G-C MMP9 c.1721G>C p.Arg574Pro Missense 10/13 -
20-44642406-G-T MMP9 c.1721G>T p.Arg574Leu Missense 10/13 -
19-54395098-G-T PRKCG c.686+14G>T - IntronicSNV - 6/17
6-152317140-T-A ESR1 c.1097-15651T>A - IntronicSNV - 4/7
4-120427844-T-C PDE5A c.2190-757A>G - IntronicSNV - 16/20
1-43777852-C-T TIE1 c.1630+50C>T - IntronicSNV - 11/22
12-6099849-C-G VWF c.6798+1136G>C - IntronicSNV - 38/51
1-43785768-G-C TIE1 c.3107+568G>C - IntronicSNV - 19/22
1-21597941-T-G ECE1 c.493+1251A>C - IntronicSNV - 4/18
15-67400490-C-T SMAD3 c.206+41792C>T - IntronicSNV - 1/8
6-152393112-A-G ESR1 c.1369+10853A>G - IntronicSNV - 6/7
9-130602408-G-A ENG c.219+2965C>T - IntronicSNV - 2/13
17-64554337-A-G PRKCA c.288+61936A>G - IntronicSNV - 3/16
7-116200587-C-T CAV1 c.*1246C>T - 3-UTRSNV 3/3 -
X-37644425-C-T CYBB c.252+1572C>T - IntronicSNV - 3/12
9-130579904-A-G ENG c.1687-422T>C - IntronicSNV - 12/13
18-48567626-C-G SMAD4 c.1-5791C>G - IntronicSNV - 1/11
19-41847860-G-A TGFB1 c.788C>T p.Thr263Ile Missense 5/7 -
2-31584035-C-T XDH c.2631+2989G>A - IntronicSNV - 24/35
12-6147119-T-C VWF c.2443-1462A>G - IntronicSNV - 18/51
4-103489603-A-G NFKB1 c.407+1311A>G - IntronicSNV - 6/23
3-25620233-T-A RARB c.610-1804T>A - IntronicSNV - 4/7
21-33036391-T-G SOD1 c.169+192T>G - IntronicSNV - 2/4
22-35786873-A-G HMOX1 c.736+917A>G - IntronicSNV - 4/4
7-116175711-T-C CAV1 c.195+8968T>C - IntronicSNV - 2/2
6-152305505-C-A ESR1 c.1097-27286C>A - IntronicSNV - 4/7
2-31570689-G-A XDH c.3148-173C>T - IntronicSNV - 28/35
12-6086265-T-C VWF c.7288-839A>G - IntronicSNV - 42/51
3-119506880-T-G NR1I2 c.-23+5733T>G - intron_variant - 1/8
10-88524209-T-G BMPR1A c.-268+7533T>G - intron_variant - 1/12
9-130586621-C-G ENG c.1096G>C p.Asp366His Missense 8/14 -
9-130586621-C-T ENG c.1096G>A p.Asp366Asn Missense 8/14 -
7-50452552-G-A IKZF1 c.589+2147G>A - intron_variant - 5/7
7-50452552-G-C IKZF1 c.589+2147G>C - intron_variant - 5/7
17-7530147-G-T SAT2 c.305-36C>A - IntronicSNV - 4/5
12-6093926-A-T VWF c.6976+285T>A - IntronicSNV - 40/51
4-26349337-G-T RBPJ c.20+26667G>T - IntronicSNV - 1/10
3-25569043-A-G RARB c.448+26229A>G - IntronicSNV - 3/7
2-203374805-C-T BMPR2 c.419-3637C>T - IntronicSNV - 3/12
15-67388553-G-A SMAD3 c.206+29855G>A - IntronicSNV - 1/8
6-152208722-A-G ESR1 c.760+6816A>G - IntronicSNV - 3/7
12-6148555-A-G VWF c.2443-2898T>C - IntronicSNV - 18/51
7-116167208-C-A CAV1 c.195+465C>A - IntronicSNV - 2/2
17-7530147-G-C SAT2 c.305-36C>G - IntronicSNV - 4/5
7-116167208-C-T CAV1 c.195+465C>T - IntronicSNV - 2/2
20-23027413-T-G THBD c.*1001A>C - 3-UTRSNV 1/1 -
15-51579598-C-T CYP19A1 c.1-44489G>A - IntronicSNV - 1/9
16-24226740-G-A PRKCB c.1864-4542G>A - IntronicSNV - 16/16
17-64579445-G-A PRKCA c.289-58028G>A - IntronicSNV - 3/16
14-64695087-A-C ESR2 c.1407-755T>G - IntronicSNV - 8/8
16-55516708-T-C MMP2 c.4-113T>C - IntronicSNV - 1/12
12-100949618-G-A NR1H4 c.1067-6045G>A - IntronicSNV - 9/10
7-116146074-C-G CAV2 c.388C>G p.Gln130Glu Missense 3/3 -
21-36190040-A-C RUNX1 c.724+16667T>G - IntronicSNV - 4/5
9-117856877-G-A TNC c.1-3580C>T - IntronicSNV - 1/27
10-88631343-T-G BMPR1A c.1-4433T>G - IntronicSNV - 1/12
6-152358179-T-C ESR1 c.1236-23947T>C - IntronicSNV - 5/7
20-48174450-G-A PTGIS c.75-7724C>T - IntronicSNV - 1/9
20-48174450-G-C PTGIS c.75-7724C>G - IntronicSNV - 1/9
13-78479385-A-C EDNRB c.484-1643T>G - IntronicSNV - 2/7
3-25512768-A-T RARB c.306+9936A>T - IntronicSNV - 2/7
11-89096797-G-C NOX4 c.1136-8586C>G - IntronicSNV - 12/17
3-25568713-C-A RARB c.448+25899C>A - IntronicSNV - 3/7
3-25568713-C-T RARB c.448+25899C>T - IntronicSNV - 3/7
7-73445114-T-C ELN c.82+2515T>C - IntronicSNV - 1/32
12-100945252-A-G NR1H4 c.1067-10411A>G - IntronicSNV - 9/10
12-100945252-A-C NR1H4 c.1067-10411A>C - IntronicSNV - 9/10
17-64773628-A-G PRKCA c.1605+3443A>G - IntronicSNV - 14/16
17-26100321-A-G NOS2 c.1477-52T>C - IntronicSNV - 12/26
3-25490969-G-A RARB c.158-11715G>A - IntronicSNV - 1/7
6-152382014-A-G ESR1 c.1236-112A>G - IntronicSNV - 5/7
3-25573327-G-A RARB c.448+30513G>A - IntronicSNV - 3/7
11-89217708-T-A NOX4 c.153+5918A>T - IntronicSNV - 2/17
15-45457458-G-T DUOX1 c.*359G>T - 3-UTRSNV 35/35 -
12-72407477-A-G TPH2 c.1069-8702A>G - IntronicSNV - 8/10
15-67469335-C-G SMAD3 c.659-4244C>G - IntronicSNV - 5/8
21-46926297-C-T COL18A1 c.3756+417C>T - IntronicSNV - 36/40
7-150710724-C-A NOS3 c.3256-88C>A - IntronicSNV - 25/26
3-119533256-G-C NR1I2 c.795-570G>C - IntronicSNV - 5/8
15-45457349-A-G DUOX1 c.*250A>G - 3-UTRSNV 35/35 -
11-101400552-G-T TRPC6 c.171-25023C>A - IntronicSNV - 1/12
3-12334416-T-C PPARG c.-3+4897T>C - intron_variant - 1/6
10-88613981-C-T BMPR1A c.1-21795C>T - IntronicSNV - 1/12
15-67469335-C-A SMAD3 c.659-4244C>A - IntronicSNV - 5/8
2-203271267-T-C BMPR2 c.76+28994T>C - IntronicSNV - 1/12
4-120528327-G-A PDE5A c.278C>T p.Ala93Val Missense 2/21 -
4-120478696-T-G PDE5A c.1199+2755A>C - IntronicSNV - 7/20
11-89155122-T-C NOX4 c.577A>G p.Thr193Ala Missense 8/18 -
22-46615376-G-A PPARA c.509-333G>A - IntronicSNV - 5/7
14-64747170-A-T ESR2 c.363-299T>A - IntronicSNV - 2/8
19-49458570-T-C BAX c.35-235T>C - IntronicSNV - 1/4
19-49458570-T-G BAX c.35-235T>G - IntronicSNV - 1/4
1-21558490-C-A ECE1 c.1670+1561G>T - IntronicSNV - 14/18
22-35777618-G-A HMOX1 c.23+429G>A - IntronicSNV - 1/4
15-45424286-C-G DUOX1 c.58+64C>G - IntronicSNV - 3/34
2-31619101-G-A XDH c.495+1433C>T - IntronicSNV - 6/35
17-26096320-C-T NOS2 c.1860-143G>A - IntronicSNV - 16/26
6-161159016-A-G PLG c.1803-554A>G - IntronicSNV - 14/18
8-108288349-T-A ANGPT1 c.1205+8561A>T - IntronicSNV - 7/8
11-101452331-C-T TRPC6 c.170+1734G>A - IntronicSNV - 1/12
11-101448664-G-C TRPC6 c.170+5401C>G - IntronicSNV - 1/12
8-108273016-T-C ANGPT1 c.1336+3433A>G - IntronicSNV - 8/8
11-65421117-G-C RELA c.*732C>G - 3-UTRSNV 11/11 -
6-43751075-A-G VEGFA c.1218-1203A>G - IntronicSNV - 7/7
7-73454199-G-A ELN c.197-1347G>A - IntronicSNV - 4/32
8-108368316-T-G ANGPT1 c.298-8991A>C - IntronicSNV - 1/8
15-45394406-G-A DUOX2 c.2655-219C>T - IntronicSNV - 20/33
6-161152240-G-A PLG c.1414G>A p.Asp472Asn Missense 11/19 -
4-103533821-T-A NFKB1 c.2592+58T>A - IntronicSNV - 22/23
3-25554363-G-A RARB c.448+11549G>A - IntronicSNV - 3/7
9-130586688-G-A ENG c.1029C>T p.Thr343Thr Synonymous 8/14 -
14-64710417-A-T ESR2 c.1225+5847T>A - IntronicSNV - 7/8
20-48175678-G-A PTGIS c.74+8902C>T - IntronicSNV - 1/9
21-36206882-T-C RUNX1 c.549A>G p.Leu183Leu Synonymous 4/6 -
14-70250500-A-G SLC10A1 c.567+2314T>C - IntronicSNV - 2/4
7-150706177-G-A NOS3 c.2245+27G>A - IntronicSNV - 18/26
19-49464363-C-T BAX c.327+192C>T - IntronicSNV - 4/4
19-49464363-C-G BAX c.327+192C>G - IntronicSNV - 4/4
21-36206882-T-G RUNX1 c.549A>C p.Leu183Leu Synonymous 4/6 -
9-130591103-G-C ENG c.360+863C>G - IntronicSNV - 3/13
9-130591103-G-T ENG c.360+863C>A - IntronicSNV - 3/13
13-78495105-A-G EDNRB c.1-2397T>C - IntronicSNV - 1/7
1-21593117-C-T ECE1 c.493+6075G>A - IntronicSNV - 4/18
15-51611654-A-T CYP19A1 c.-39+19038T>A - intron_variant - 1/9
21-36223627-G-A RUNX1 c.532+8144C>T - IntronicSNV - 3/5
21-36248121-G-C RUNX1 c.427+4733C>G - IntronicSNV - 2/5
X-138615521-C-T F9 c.88+2510C>T - IntronicSNV - 1/7
6-161153990-G-A PLG c.1588-1037G>A - IntronicSNV - 12/18
17-28538532-C-T SLC6A4 c.1205-90G>A - IntronicSNV - 9/14
15-45451233-C-G DUOX1 c.3703-1802C>G - IntronicSNV - 29/34
1-11907648-C-T NPPA c.94G>A p.Val32Met Missense 1/3 -
21-46926551-C-T COL18A1 c.3756+671C>T - IntronicSNV - 36/40
12-6117211-G-A VWF c.5842+3572C>T - IntronicSNV - 34/51
5-140011468-C-A CD14 c.1101G>T p.Leu367Leu Synonymous 2/2 -
5-140011468-C-G CD14 c.1101G>C p.Leu367Leu Synonymous 2/2 -
6-43742579-T-C VEGFA c.658+450T>C - IntronicSNV - 2/7
12-6060960-G-A VWF c.8155+50C>T - IntronicSNV - 50/51
20-43803725-T-C PI3 c.79+83T>C - IntronicSNV - 1/2
2-31563797-A-G XDH c.3585+398T>C - IntronicSNV - 33/35
3-25526372-G-T RARB c.307-16301G>T - IntronicSNV - 2/7
15-51547938-C-G CYP19A1 c.1-12829G>C - IntronicSNV - 1/9
1-11906068-A-G NPPA c.454T>C - Missense 3/3 -
X-37651663-T-C CYBB c.337+351T>C - IntronicSNV - 4/12
17-64631753-A-C PRKCA c.289-5720A>C - IntronicSNV - 3/16
12-6194655-T-C VWF c.658-9938A>G - IntronicSNV - 6/51
1-11900825-G-T CLCN6 c.*545G>T - 3-UTRSNV 23/23 -
21-36246252-G-A RUNX1 c.427+6602C>T - IntronicSNV - 2/5
10-88631628-T-C BMPR1A c.1-4148T>C - IntronicSNV - 2/12
1-27239920-C-G NR0B2 c.512G>C p.Gly171Ala Missense 1/2 -
16-24105669-G-A PRKCB c.821+51G>A - IntronicSNV - 7/16
17-64432066-A-G PRKCA c.206-60253A>G - IntronicSNV - 2/16
4-26342538-T-G RBPJ c.20+19868T>G - IntronicSNV - 1/10
4-103455347-C-T NFKB1 c.159+305C>T - IntronicSNV - 4/23
9-117823901-T-C TNC c.4033+1295A>G - IntronicSNV - 13/27
1-11900825-G-C CLCN6 c.*545G>C - 3-UTRSNV 23/23 -
12-6187665-G-T VWF c.658-2948C>A - IntronicSNV - 6/51
6-152343763-A-G ESR1 c.1235+10834A>G - IntronicSNV - 5/7
15-67435075-G-T SMAD3 c.207-22158G>T - IntronicSNV - 1/8
X-107396365-G-A ATG4A c.1126+48G>A - IntronicSNV - 12/12
13-103706281-C-A SLC10A2 c.497-1223G>T - IntronicSNV - 2/5
13-103706281-C-G SLC10A2 c.497-1223G>C - IntronicSNV - 2/5
13-103706281-C-T SLC10A2 c.497-1223G>A - IntronicSNV - 2/5
21-46924785-C-T COL18A1 c.3409-263C>T - IntronicSNV - 33/40
6-152284821-T-C ESR1 c.1096+19178T>C - IntronicSNV - 4/7
X-138637516-C-G F9 c.723+4093C>G - IntronicSNV - 6/7
21-46924785-C-G COL18A1 c.3409-263C>G - IntronicSNV - 33/40
6-152278741-C-T ESR1 c.1096+13098C>T - IntronicSNV - 4/7
1-21544601-C-T ECE1 c.*1847G>A - 3-UTRSNV 19/19 -
X-37658455-A-G CYBB c.804+118A>G - IntronicSNV - 7/12
18-45363214-A-T SMAD2 c.*4984T>A - 3-UTRSNV 11/11 -
21-36222139-T-A RUNX1 c.532+9632A>T - IntronicSNV - 3/5
22-46595033-G-A PPARA c.208+545G>A - IntronicSNV - 3/7
9-117792583-C-G TNC c.6022G>C p.Glu2008Gln Missense 24/28 -
12-6082558-A-T VWF c.7438-1683T>A - IntronicSNV - 43/51
21-36236516-G-A RUNX1 c.428-4641C>T - IntronicSNV - 2/5
15-45397566-G-C DUOX2 c.2334+275C>G - IntronicSNV - 18/33
4-148423838-T-C EDNRA c.420+16585T>C - IntronicSNV - 2/5
4-148423838-T-G EDNRA c.420+16585T>G - IntronicSNV - 2/5
17-64440007-A-T PRKCA c.206-52312A>T - IntronicSNV - 2/16
14-62198954-G-C HIF1A c.774-182G>C - IntronicSNV - 6/14
12-100930213-C-T NR1H4 c.721-77C>T - IntronicSNV - 6/10
12-100930213-C-G NR1H4 c.721-77C>G - IntronicSNV - 6/10
12-100930213-C-A NR1H4 c.721-77C>A - IntronicSNV - 6/10
6-32007459-A-G CYP21A2 c.651+35A>G - IntronicSNV - 5/9
14-62198954-G-T HIF1A c.774-182G>T - IntronicSNV - 6/14
11-101367719-G-A TRPC6 c.946-5250C>T - IntronicSNV - 2/12
3-8782406-A-T CAV3 c.115-4806A>T - IntronicSNV - 1/1
3-8777706-C-T CAV3 c.114+2030C>T - IntronicSNV - 1/1
13-78504473-A-G EDNRB c.1-11765T>C - IntronicSNV - 1/7
17-28546914-C-T SLC6A4 c.344-965G>A - IntronicSNV - 3/14
8-108306487-A-G ANGPT1 c.937-222T>C - IntronicSNV - 5/8
15-67438091-A-G SMAD3 c.207-19142A>G - IntronicSNV - 1/8
12-6095274-T-C VWF c.6799-443A>G - IntronicSNV - 38/51
17-64331957-A-G PRKCA c.205+29712A>G - IntronicSNV - 2/16
20-48138971-T-C PTGIS c.855+1624A>G - IntronicSNV - 6/9
11-101343362-C-T TRPC6 c.2010-299G>A - IntronicSNV - 7/12
7-50454736-A-G IKZF1 c.590-307A>G - intron_variant - 5/7
10-104157711-T-G NFKB2 c.662-27T>G - IntronicSNV - 8/22
10-104157711-T-C NFKB2 c.662-27T>C - IntronicSNV - 8/22
18-45394919-T-C SMAD2 c.521-91A>G - IntronicSNV - 4/10
15-67466879-T-G SMAD3 c.658+3937T>G - IntronicSNV - 5/8
15-67466879-T-C SMAD3 c.658+3937T>C - IntronicSNV - 5/8
21-36258025-T-A RUNX1 c.270+1115A>T - IntronicSNV - 1/5
3-8787220-T-C CAV3 c.123T>C p.Phe41Phe Synonymous 2/2 -
12-53617829-A-G RARG c.184+3317T>C - IntronicSNV - 3/9
17-64443372-T-G PRKCA c.206-48947T>G - IntronicSNV - 2/16
8-108377901-A-G ANGPT1 c.298-18576T>C - IntronicSNV - 1/8
3-25579202-C-A RARB c.449-32047C>A - IntronicSNV - 3/7
21-36220679-T-C RUNX1 c.532+11092A>G - IntronicSNV - 3/5
3-119525497-A-G NR1I2 c.1-601A>G - IntronicSNV - 1/8
9-117880149-A-C TNC c.-137+112T>G - intron_variant - 1/27
11-101444805-C-G TRPC6 c.170+9260G>C - IntronicSNV - 1/12
21-36258025-T-C RUNX1 c.270+1115A>G - IntronicSNV - 1/5
6-43742579-T-G VEGFA c.658+450T>G - IntronicSNV - 2/7
14-62200201-G-C HIF1A c.881-655G>C - IntronicSNV - 7/14
21-46926054-T-C COL18A1 c.3756+174T>C - IntronicSNV - 36/40
4-120455649-A-G PDE5A c.1632+4466T>C - IntronicSNV - 11/20
15-45420718-A-C DUOXA1 c.-30+498T>G - intron_variant - 3/10
15-45420718-A-T DUOXA1 c.-30+498T>A - intron_variant - 3/10
9-117880149-A-G TNC c.-137+112T>C - intron_variant - 1/27
9-21974218-A-G CDKN2A c.150+459T>C - IntronicSNV - 1/2
2-203358214-T-C BMPR2 c.419-20228T>C - IntronicSNV - 3/12
17-64650038-A-G PRKCA c.529+8409A>G - IntronicSNV - 5/16
3-8781607-C-G CAV3 c.115-5605C>G - IntronicSNV - 1/1
12-6153534-T-C VWF c.2365A>G p.Thr789Ala Missense 18/52 -
15-67391805-T-C SMAD3 c.206+33107T>C - IntronicSNV - 1/8
15-67391805-T-A SMAD3 c.206+33107T>A - IntronicSNV - 1/8
12-100950371-G-T NR1H4 c.1067-5292G>T - IntronicSNV - 9/10
8-108321048-T-C ANGPT1 c.809-5453A>G - IntronicSNV - 4/8
12-6106255-C-T VWF c.5843-867G>A - IntronicSNV - 34/51
7-73480569-G-A ELN c.2086+242G>A - IntronicSNV - 31/32
1-11862332-C-T MTHFR c.236+606G>A - IntronicSNV - 2/11
12-72348698-G-T TPH2 c.608+5263G>T - IntronicSNV - 5/10
1-43787437-A-G TIE1 c.3345+51A>G - IntronicSNV - 22/22
22-46586110-G-A PPARA c.1-8171G>A - IntronicSNV - 2/7
12-6106255-C-A VWF c.5843-867G>T - IntronicSNV - 34/51
15-67441866-C-G SMAD3 c.207-15367C>G - IntronicSNV - 1/8
11-89214114-G-A NOX4 c.153+9512C>T - IntronicSNV - 2/17
15-67441866-C-A SMAD3 c.207-15367C>A - IntronicSNV - 1/8
17-38496320-G-A RARA c.179-8248G>A - IntronicSNV - 2/8
7-50462935-G-A IKZF1 c.850+3374G>A - intron_variant - 7/7
4-26332690-A-C RBPJ c.20+10020A>C - IntronicSNV - 1/10
13-103698168-A-T SLC10A2 c.*315T>A - 3-UTRSNV 6/6 -
17-64617466-T-C PRKCA c.289-20007T>C - IntronicSNV - 3/16
11-89127087-T-C NOX4 c.1074+6098A>G - IntronicSNV - 11/17
13-78471025-G-A EDNRB c.*1310C>T - 3-UTRSNV 8/8 -
7-150707488-C-T NOS3 c.2685+113C>T - IntronicSNV - 21/26
8-108326351-A-G ANGPT1 c.808+7773T>C - IntronicSNV - 4/8
2-203246340-T-A BMPR2 c.76+4067T>A - IntronicSNV - 1/12
20-44637624-C-G MMP9 c.59C>G p.Ala20Gly Missense 1/13 -
20-44637624-C-T MMP9 c.59C>T p.Ala20Val Missense 1/13 -
15-67450893-A-G SMAD3 c.207-6340A>G - IntronicSNV - 1/8
3-25550452-A-G RARB c.448+7638A>G - IntronicSNV - 3/7
12-72335855-G-A TPH2 c.255+342G>A - IntronicSNV - 2/10
11-89214114-G-C NOX4 c.153+9512C>G - IntronicSNV - 2/17
6-152295715-G-C ESR1 c.1096+30072G>C - IntronicSNV - 4/7
3-25514982-G-C RARB c.306+12150G>C - IntronicSNV - 2/7
17-64396980-C-T PRKCA c.205+94735C>T - IntronicSNV - 2/16
1-21581979-C-A ECE1 c.1020+461G>T - IntronicSNV - 8/18
17-64396980-C-A PRKCA c.205+94735C>A - IntronicSNV - 2/16
7-116177457-A-G CAV1 c.195+10714A>G - IntronicSNV - 2/2
4-26423433-G-T RBPJ c.496+1086G>T - IntronicSNV - 5/10
4-26423433-G-A RBPJ c.496+1086G>A - IntronicSNV - 5/10
4-26423433-G-C RBPJ c.496+1086G>C - IntronicSNV - 5/10
12-6134231-C-T VWF c.3222+515G>A - IntronicSNV - 24/51
12-6134231-C-A VWF c.3222+515G>T - IntronicSNV - 24/51
7-116177457-A-T CAV1 c.195+10714A>T - IntronicSNV - 2/2
3-8787473-C-T CAV3 c.376C>T p.Arg126Cys Missense 2/2 -
17-64400808-T-G PRKCA c.206-91511T>G - IntronicSNV - 2/16
17-64400808-T-A PRKCA c.206-91511T>A - IntronicSNV - 2/16
8-108378623-C-A ANGPT1 c.298-19298G>T - IntronicSNV - 1/8
6-152304596-A-G ESR1 c.1097-28195A>G - IntronicSNV - 4/7
15-51594972-G-A CYP19A1 c.-39+35720C>T - intron_variant - 1/9
8-108408409-A-C ANGPT1 c.298-49084T>G - IntronicSNV - 1/8
1-43778123-G-A TIE1 c.1778G>A p.Arg593Gln Missense 12/23 -
4-148432440-A-T EDNRA c.421-24589A>T - IntronicSNV - 2/5
4-148432440-A-C EDNRA c.421-24589A>C - IntronicSNV - 2/5
6-152270672-C-T ESR1 c.1096+5029C>T - IntronicSNV - 4/7
6-152270672-C-G ESR1 c.1096+5029C>G - IntronicSNV - 4/7
11-89179077-T-G NOX4 c.350-1677A>C - IntronicSNV - 4/17
17-28561755-A-T SLC6A4 c.-221+876T>A - intron_variant - 1/14
8-108457353-A-G ANGPT1 c.297+52137T>C - IntronicSNV - 1/8
10-88644739-C-T BMPR1A c.68-5080C>T - IntronicSNV - 3/12
4-148464992-C-T EDNRA c.*1222C>T - 3-UTRSNV 6/6 -
4-103531112-A-G NFKB1 c.2228-620A>G - IntronicSNV - 19/23
2-31558306-T-C XDH c.*518A>G - 3-UTRSNV 36/36 -
21-36182159-G-A RUNX1 c.725-10400C>T - IntronicSNV - 4/5
12-6111476-A-T VWF c.5843-6088T>A - IntronicSNV - 34/51
12-6111476-A-G VWF c.5843-6088T>C - IntronicSNV - 34/51
7-116171510-A-G CAV1 c.195+4767A>G - IntronicSNV - 2/2
9-130579599-C-T ENG c.1687-117G>A - IntronicSNV - 12/13
4-26423738-A-G RBPJ c.496+1391A>G - IntronicSNV - 5/10
13-103705859-G-T SLC10A2 c.497-801C>A - IntronicSNV - 2/5
15-39878275-G-A THBS1 c.1120+511G>A - IntronicSNV - 7/21
3-8775847-C-G CAV3 c.114+171C>G - IntronicSNV - 1/1
15-51516055-C-A CYP19A1 c.452-1333G>T - IntronicSNV - 4/9
9-117840742-G-C TNC c.2405-251C>G - IntronicSNV - 6/27
9-117840742-G-A TNC c.2405-251C>T - IntronicSNV - 6/27
5-140012236-AC-AA CD14 c.332_333delGTinsAA p.Arg111Gln Missense 2/2 -
15-45428275-C-T DUOX1 c.864+129C>T - IntronicSNV - 8/34
8-108453134-A-T ANGPT1 c.297+56356T>A - IntronicSNV - 1/8
3-8782406-A-G CAV3 c.115-4806A>G - IntronicSNV - 1/1
X-138642197-G-A F9 c.724-703G>A - IntronicSNV - 6/7
21-36202440-T-C RUNX1 c.724+4267A>G - IntronicSNV - 4/5
15-39882178-A-G THBS1 c.2099A>G p.Asn700Ser Missense 13/22 -
12-53605545-G-A RARG c.1280C>T p.Ser427Leu Missense 10/10 -
7-116148370-T-C CAV2 c.*2195T>C - 3-UTRSNV 3/3 -
7-116148370-T-G CAV2 c.*2195T>G - 3-UTRSNV 3/3 -
5-78421959-G-A BHMT c.716G>A p.Arg239Gln Missense 6/8 -
12-6100485-A-G VWF c.6798+500T>C - IntronicSNV - 38/51
3-25580776-C-G RARB c.449-30473C>G - IntronicSNV - 3/7
12-52304399-C-T ACVRL1 c.1-1860C>T - IntronicSNV - 1/9
3-8780438-C-T CAV3 c.114+4762C>T - IntronicSNV - 1/1
12-72400851-T-C TPH2 c.1068+12506T>C - IntronicSNV - 8/10
17-64337021-C-T PRKCA c.205+34776C>T - IntronicSNV - 2/16
13-78483063-C-G EDNRB c.484-5321G>C - IntronicSNV - 2/7
7-50466695-G-A IKZF1 c.851-921G>A - intron_variant - 7/7
22-46593336-A-T PPARA c.1-945A>T - IntronicSNV - 2/7
11-89065017-C-T NOX4 c.1616+3996G>A - IntronicSNV - 17/17
13-103698168-A-C SLC10A2 c.*315T>G - 3-UTRSNV 6/6 -
4-26323918-G-C RBPJ c.20+1248G>C - IntronicSNV - 1/10
17-38489170-A-G RARA c.178+1522A>G - IntronicSNV - 2/8
9-130591103-G-A ENG c.360+863C>T - IntronicSNV - 3/13
1-11867044-T-C CLCN6 c.88-144T>C - IntronicSNV - 1/22
17-64526395-A-G PRKCA c.288+33994A>G - IntronicSNV - 3/16
15-51613529-G-C CYP19A1 c.-39+17163C>G - intron_variant - 1/9
9-130614912-G-T ENG c.67+1656C>A - IntronicSNV - 1/13
9-130614912-G-A ENG c.67+1656C>T - IntronicSNV - 1/13
9-130614912-G-C ENG c.67+1656C>G - IntronicSNV - 1/13
3-8778628-A-C CAV3 c.114+2952A>C - IntronicSNV - 1/1
3-8778628-A-T CAV3 c.114+2952A>T - IntronicSNV - 1/1
11-89201627-G-A NOX4 c.154-16564C>T - IntronicSNV - 2/17
21-44483772-C-T CBS c.828+238G>A - IntronicSNV - 9/16
3-8775847-C-T CAV3 c.114+171C>T - IntronicSNV - 1/1
6-152229850-G-A ESR1 c.760+27944G>A - IntronicSNV - 3/7
X-138632859-A-G F9 c.521-362A>G - IntronicSNV - 5/7
X-138632859-A-C F9 c.521-362A>C - IntronicSNV - 5/7
6-152412078-T-A ESR1 c.1370-3442T>A - IntronicSNV - 6/7
11-18047816-G-T TPH1 c.803+221C>A - IntronicSNV - 7/10
17-64345957-C-T PRKCA c.205+43712C>T - IntronicSNV - 2/16
16-55532458-T-C MMP2 c.1619+98T>C - IntronicSNV - 11/12
22-35783413-A-G HMOX1 c.636+244A>G - IntronicSNV - 3/4
14-64700739-A-G ESR2 c.1406+949T>C - IntronicSNV - 8/8
17-61559923-C-T ACE c.1215C>T p.Pro405Pro Synonymous 8/25 -
10-88608226-T-C BMPR1A c.1-27550T>C - IntronicSNV - 1/12
17-26088855-G-A NOS2 c.2801-598C>T - IntronicSNV - 22/26
17-26109030-T-C NOS2 c.722+11A>G - IntronicSNV - 7/26
15-51583939-A-G CYP19A1 c.-39+46753T>C - intron_variant - 1/9
6-152283279-G-A ESR1 c.1096+17636G>A - IntronicSNV - 4/7
4-26342538-T-A RBPJ c.20+19868T>A - IntronicSNV - 1/10
10-88611122-T-C BMPR1A c.-153+12386T>C - intron_variant - 2/12
6-43751359-C-T VEGFA c.1218-919C>T - IntronicSNV - 7/7
4-103524629-G-A NFKB1 c.1752+2463G>A - IntronicSNV - 16/23
21-36245902-A-C RUNX1 c.427+6952T>G - IntronicSNV - 2/5
14-105246686-G-A AKT1 c.47-133C>T - IntronicSNV - 2/13
7-100781909-C-T SERPINE1 c.*1186C>T - 3-UTRSNV 9/9 -
6-152265522-G-C ESR1 c.975G>C p.Pro325Pro Synonymous 4/8 -
11-18056225-T-A TPH1 c.301+1281A>T - IntronicSNV - 3/10
6-12295987-C-T EDN1 c.534-208C>T - IntronicSNV - 4/4
12-52307308-A-G ACVRL1 c.314-35A>G - IntronicSNV - 3/9
17-28523726-G-T SLC6A4 c.*1748C>A - 3-UTRSNV 15/15 -
11-101446591-G-C TRPC6 c.170+7474C>G - IntronicSNV - 1/12
3-119520125-T-A NR1I2 c.1-5973T>A - IntronicSNV - 1/8
3-119520125-T-G NR1I2 c.1-5973T>G - IntronicSNV - 1/8
7-116190382-C-T CAV1 c.196-8618C>T - IntronicSNV - 2/2
21-36235311-T-C RUNX1 c.428-3436A>G - IntronicSNV - 2/5
11-102709425-A-G MMP3 c.1086T>C p.Ala362Ala Synonymous 8/10 -
7-116190382-C-G CAV1 c.196-8618C>G - IntronicSNV - 2/2
6-161161904-G-C PLG c.2019-439G>C - IntronicSNV - 16/18
15-67432676-G-C SMAD3 c.207-24557G>C - IntronicSNV - 1/8
X-100109374-A-G NOX1 c.805-3060T>C - IntronicSNV - 7/12
4-120493937-C-A PDE5A c.832-5638G>T - IntronicSNV - 3/20
4-120493937-C-G PDE5A c.832-5638G>C - IntronicSNV - 3/20
6-12294993-G-A EDN1 c.533+356G>A - IntronicSNV - 4/4
6-152371190-C-A ESR1 c.1236-10936C>A - IntronicSNV - 5/7
3-25514276-G-T RARB c.306+11444G>T - IntronicSNV - 2/7
1-153520317-C-T S100A3 c.147G>A p.Glu49Glu Synonymous 3/3 -
17-64806716-C-A PRKCA c.*6561C>A - 3-UTRSNV 17/17 -
3-25619920-G-C RARB c.610-2117G>C - IntronicSNV - 4/7
2-231977527-C-A HTR2B c.553+916G>T - IntronicSNV - 3/3
2-231977527-C-T HTR2B c.553+916G>A - IntronicSNV - 3/3
15-45394406-G-C DUOX2 c.2655-219C>G - IntronicSNV - 20/33
8-108263134-C-G ANGPT1 c.*949G>C - 3-UTRSNV 9/9 -
10-88568565-G-A BMPR1A c.-267-30057G>A - intron_variant - 1/12
17-28525011-A-C SLC6A4 c.*463T>G - 3-UTRSNV 15/15 -
1-11850927-C-T MTHFR c.1781G>A p.Arg594Gln Missense 12/12 -
X-100099790-T-C NOX1 c.1569-723A>G - IntronicSNV - 12/12
15-39880822-A-G THBS1 c.1567A>G p.Thr523Ala Missense 10/22 -
X-100099790-T-A NOX1 c.1569-723A>T - IntronicSNV - 12/12
22-35783617-G-A HMOX1 c.636+448G>A - IntronicSNV - 3/4
X-100120495-A-T NOX1 c.142-1911T>A - IntronicSNV - 2/12
9-117795288-C-A TNC c.5788-1324G>T - IntronicSNV - 22/27
4-26431386-A-G RBPJ c.889-134A>G - IntronicSNV - 8/10
12-72352543-T-C TPH2 c.608+9108T>C - IntronicSNV - 5/10
12-72352543-T-G TPH2 c.608+9108T>G - IntronicSNV - 5/10
11-18063977-A-T TPH1 c.1-1668T>A - IntergenicSNV - 1/10
11-89135555-G-A NOX4 c.785C>T p.Thr262Ile Missense 9/18 -
3-119527776-T-C NR1I2 c.198-1132T>C - IntronicSNV - 2/8
12-6151597-G-A VWF c.2442+1860C>T - IntronicSNV - 18/51
17-61573761-T-C ACE c.3387T>C p.Phe1129Phe Synonymous 23/25 -
9-117800417-T-A TNC c.5512+123A>T - IntronicSNV - 20/27
2-203246411-G-A BMPR2 c.76+4138G>A - IntronicSNV - 1/12
21-36202775-C-T RUNX1 c.724+3932G>A - IntronicSNV - 4/5
21-36202775-C-G RUNX1 c.724+3932G>C - IntronicSNV - 4/5
10-48412830-G-T GDF2 c.*748C>A - IntergenicSNV 2/2 -
11-101407869-T-G TRPC6 c.171-32340A>C - IntronicSNV - 1/12
11-101407869-T-C TRPC6 c.171-32340A>G - IntronicSNV - 1/12
4-120418838-C-G PDE5A c.*918G>C - 3-UTRSNV 21/21 -
2-231972056-A-G PSMD1 c.1883+20161A>G - IntronicSNV - 16/23
4-148461037-T-C EDNRA c.642T>C p.His214His Synonymous 4/6 -
X-138633280-A-G F9 c.580A>G p.Thr194Ala Missense 6/8 -
21-44490092-T-C CBS c.210-1367A>G - IntronicSNV - 3/16
17-64507560-C-A PRKCA c.288+15159C>A - IntronicSNV - 3/16
8-108437679-C-A ANGPT1 c.297+71811G>T - IntronicSNV - 1/8
11-101349838-C-A TRPC6 c.1511-2573G>T - IntronicSNV - 5/12
4-110902043-A-C EGF c.2283A>C p.Gly761Gly Synonymous 15/23 -
8-108439262-T-C ANGPT1 c.297+70228A>G - IntronicSNV - 1/8
2-31566124-G-A XDH c.3405-961C>T - IntronicSNV - 31/35
4-26430147-A-G RBPJ c.748-195A>G - IntronicSNV - 7/10
15-51514572-G-A CYP19A1 c.602C>T p.Thr201Met Missense 5/10 -
19-41851509-C-A TGFB1 c.517-740G>T - IntronicSNV - 2/6
12-6063959-C-T VWF c.7888-1199G>A - IntronicSNV - 47/51
15-67419987-C-T SMAD3 c.207-37246C>T - IntronicSNV - 1/8
21-36218264-A-G RUNX1 c.533-11366T>C - IntronicSNV - 3/5
3-25589196-A-T RARB c.449-22053A>T - IntronicSNV - 3/7
12-51724286-T-C CELA1 c.610-669A>G - IntronicSNV - 6/7
2-203338245-G-A BMPR2 c.418+5833G>A - IntronicSNV - 3/12
2-203338245-G-T BMPR2 c.418+5833G>T - IntronicSNV - 3/12
1-11860683-T-C MTHFR c.476-304A>G - IntronicSNV - 3/11
12-72340073-G-T TPH2 c.540+1607G>T - IntronicSNV - 4/10
17-64410915-T-C PRKCA c.206-81404T>C - IntronicSNV - 2/16
3-12470239-A-C PPARG c.1187-5158A>C - IntronicSNV - 6/6
17-7536527-G-A SHBG c.1066G>A p.Asp356Asn Missense 8/8 -
3-119503045-C-T NR1I2 c.-23+1898C>T - intron_variant - 1/8
3-25593872-G-A RARB c.449-17377G>A - IntronicSNV - 3/7
2-31592403-A-G XDH c.1980+818T>C - IntronicSNV - 18/35
11-65422853-A-C RELA c.1033+306T>G - IntronicSNV - 10/10
15-67469335-C-T SMAD3 c.659-4244C>T - IntronicSNV - 5/8
6-161138848-C-G PLG c.788-478C>G - IntronicSNV - 7/18
18-45446307-T-C SMAD2 c.-54+10425A>G - intron_variant - 1/10
17-64445950-C-T PRKCA c.206-46369C>T - IntronicSNV - 2/16
X-37666245-A-G CYBB c.1461+459A>G - IntronicSNV - 11/12
10-48412337-A-T GDF2 c.*1241T>A - IntergenicSNV 2/2 -
4-148445429-A-T EDNRA c.421-11600A>T - IntronicSNV - 2/5
15-67460757-C-T SMAD3 c.607+1566C>T - IntronicSNV - 4/8
21-46909412-G-A COL18A1 c.2476G>A p.Val826Met Missense 18/41 -
3-25593127-G-A RARB c.449-18122G>A - IntronicSNV - 3/7
20-44643592-A-G MMP9 c.2005+479A>G - IntronicSNV - 12/12
8-108306487-A-T ANGPT1 c.937-222T>A - IntronicSNV - 5/8
15-51539368-G-A CYP19A1 c.1-4259C>T - IntronicSNV - 1/9
2-203372389-G-A BMPR2 c.419-6053G>A - IntronicSNV - 3/12
10-88558471-C-T BMPR1A c.-267-40151C>T - intron_variant - 1/12
9-117856318-C-T TNC c.1-3021G>A - IntronicSNV - 1/27
17-64471675-A-G PRKCA c.206-20644A>G - IntronicSNV - 2/16
8-108273016-T-A ANGPT1 c.1336+3433A>T - IntronicSNV - 8/8
8-108273016-T-G ANGPT1 c.1336+3433A>C - IntronicSNV - 8/8
19-41856886-A-C TGFB1 c.355+1709T>G - IntronicSNV - 1/6
7-50460096-G-A IKZF1 c.850+535G>A - intron_variant - 7/7
6-43747577-T-G VEGFA c.963-892T>G - IntronicSNV - 5/7
8-108440926-C-T ANGPT1 c.297+68564G>A - IntronicSNV - 1/8
6-43747577-T-C VEGFA c.963-892T>C - IntronicSNV - 5/7
4-26344731-G-A RBPJ c.20+22061G>A - IntronicSNV - 1/10
15-45433844-C-G DUOX1 c.1684+236C>G - IntronicSNV - 15/34
21-36254807-T-C RUNX1 c.271-1797A>G - IntronicSNV - 1/5
10-88631628-T-A BMPR1A c.1-4148T>A - IntronicSNV - 2/12
15-67418391-A-G SMAD3 c.207-38842A>G - IntronicSNV - 1/8
12-6093926-A-G VWF c.6976+285T>C - IntronicSNV - 40/51
6-152371190-C-T ESR1 c.1236-10936C>T - IntronicSNV - 5/7
15-51514572-G-T CYP19A1 c.602C>A p.Thr201Lys Missense 5/10 -
17-38500914-T-C RARA c.179-3654T>C - IntronicSNV - 2/8
8-108395277-T-C ANGPT1 c.298-35952A>G - IntronicSNV - 1/8
15-45401636-C-T DUOX2 c.1234+86G>A - IntronicSNV - 11/33
6-152311537-T-A ESR1 c.1097-21254T>A - IntronicSNV - 4/7
11-101329984-G-A TRPC6 c.2485-4152C>T - IntronicSNV - 10/12
22-46582741-G-A PPARA c.1-11540G>A - IntronicSNV - 2/7
21-33039320-A-G SOD1 c.240-251A>G - IntronicSNV - 3/4
17-61558229-A-G ACE c.848-223A>G - IntronicSNV - 5/24
2-31611367-T-G XDH c.496-206A>C - IntronicSNV - 6/35
2-31611367-T-C XDH c.496-206A>G - IntronicSNV - 6/35
2-31611367-T-A XDH c.496-206A>T - IntronicSNV - 6/35
4-120433248-C-T PDE5A c.2001-959G>A - IntronicSNV - 14/20
18-48568271-G-A SMAD4 c.1-5146G>A - IntronicSNV - 1/11
11-18062482-T-A TPH1 c.1-173A>T - IntergenicSNV - 1/10
6-161138181-G-T PLG c.787+386G>T - IntronicSNV - 7/18
X-138616801-A-T F9 c.89-2368A>T - IntronicSNV - 1/7
1-11867044-T-A CLCN6 c.88-144T>A - IntronicSNV - 1/22
16-24104188-C-G PRKCB c.606C>G p.Pro202Pro Synonymous 6/17 -
16-24104188-C-T PRKCB c.606C>T p.Pro202Pro Synonymous 6/17 -
X-100117032-T-C NOX1 c.804+128A>G - IntronicSNV - 7/12
11-89167669-G-A NOX4 c.476-1645C>T - IntronicSNV - 6/17
2-31598823-T-C XDH c.1428-403A>G - IntronicSNV - 14/35
13-103707284-T-A SLC10A2 c.497-2226A>T - IntronicSNV - 2/5
15-51558731-G-A CYP19A1 c.1-23622C>T - IntronicSNV - 1/9
15-45460422-A-G SHF c.1086-91T>C - IntronicSNV - 7/7
21-36180986-A-G RUNX1 c.725-9227T>C - IntronicSNV - 4/5
4-110902043-A-G EGF c.2283A>G p.Gly761Gly Synonymous 15/23 -
6-161138181-G-C PLG c.787+386G>C - IntronicSNV - 7/18
12-5153147-C-T KCNA5 c.1-167C>T - 5-UTRSNV 1/1 -
12-6063429-A-C VWF c.7888-669T>G - IntronicSNV - 47/51
2-31585215-T-A XDH c.2631+1809A>T - IntronicSNV - 24/35
7-116194905-G-A CAV1 c.196-4095G>A - IntronicSNV - 2/2
15-67407899-G-A SMAD3 c.206+49201G>A - IntronicSNV - 1/8
15-67439207-T-G SMAD3 c.207-18026T>G - IntronicSNV - 1/8
8-108411542-G-A ANGPT1 c.298-52217C>T - IntronicSNV - 1/8
12-51732500-G-A CELA1 c.609+1144C>T - IntronicSNV - 6/7
5-78416416-C-T BHMT c.477+52C>T - IntronicSNV - 4/7
11-89141506-C-T NOX4 c.630-5796G>A - IntronicSNV - 8/17
3-25618700-C-G RARB c.610-3337C>G - IntronicSNV - 4/7
3-25618700-C-T RARB c.610-3337C>T - IntronicSNV - 4/7
21-46886710-C-T COL18A1 c.647-1446C>T - IntronicSNV - 1/40
10-48414570-A-G GDF2 c.347-49T>C - IntronicSNV - 1/1
3-119520125-T-C NR1I2 c.1-5973T>C - IntronicSNV - 1/8
8-108291703-C-G ANGPT1 c.1205+5207G>C - IntronicSNV - 7/8
11-18047255-G-T TPH1 c.804-7C>A - IntronicSNV - 7/10
14-64736660-G-C ESR2 c.536-1031C>G - IntronicSNV - 3/8
3-8778748-C-T CAV3 c.114+3072C>T - IntronicSNV - 1/1
3-25620233-T-G RARB c.610-1804T>G - IntronicSNV - 4/7
6-161158734-T-C PLG c.1802+695T>C - IntronicSNV - 14/18
1-43777852-C-G TIE1 c.1630+50C>G - IntronicSNV - 11/22
11-101405218-A-C TRPC6 c.171-29689T>G - IntronicSNV - 1/12
11-101405218-A-G TRPC6 c.171-29689T>C - IntronicSNV - 1/12
7-116173064-G-A CAV1 c.195+6321G>A - IntronicSNV - 2/2
12-72397784-A-G TPH2 c.1068+9439A>G - IntronicSNV - 8/10
12-72374891-G-T TPH2 c.941+2024G>T - IntronicSNV - 7/10
6-161126074-C-T PLG c.50-1365C>T - IntronicSNV - 1/18
1-11867044-T-G CLCN6 c.88-144T>G - IntronicSNV - 1/22
4-120450159-A-C PDE5A c.1633-3309T>G - IntronicSNV - 11/20
20-48133782-G-C PTGIS c.856-2850C>G - IntronicSNV - 6/9
20-48133782-G-A PTGIS c.856-2850C>T - IntronicSNV - 6/9
12-6148674-G-A VWF c.2443-3017C>T - IntronicSNV - 18/51
15-67472185-G-C SMAD3 c.659-1394G>C - IntronicSNV - 5/8
15-67472185-G-A SMAD3 c.659-1394G>A - IntronicSNV - 5/8
15-67414237-A-G SMAD3 c.207-42996A>G - IntronicSNV - 1/8
7-150700946-C-A NOS3 c.1752+1554C>A - IntronicSNV - 14/26
12-53612881-T-C RARG c.185-3303A>G - IntronicSNV - 3/9
12-72388374-G-T TPH2 c.1068+29G>T - IntronicSNV - 8/10
15-67414237-A-T SMAD3 c.207-42996A>T - IntronicSNV - 1/8
3-8781607-C-T CAV3 c.115-5605C>T - IntronicSNV - 1/1
1-11900825-G-A CLCN6 c.*545G>A - 3-UTRSNV 23/23 -
12-6149738-T-G VWF c.2442+3719A>C - IntronicSNV - 18/51
10-88538911-C-A BMPR1A c.-268+22235C>A - intron_variant - 1/12
12-6196183-C-A VWF c.657+8443G>T - IntronicSNV - 6/51
15-45442687-G-A DUOX1 c.2819-143G>A - IntronicSNV - 22/34
15-45442687-G-C DUOX1 c.2819-143G>C - IntronicSNV - 22/34
15-45442687-G-T DUOX1 c.2819-143G>T - IntronicSNV - 22/34
6-152286625-T-C ESR1 c.1096+20982T>C - IntronicSNV - 4/7
6-152286625-T-A ESR1 c.1096+20982T>A - IntronicSNV - 4/7
16-23956965-G-T PRKCB c.206-42864G>T - IntronicSNV - 2/16
8-108301798-G-T ANGPT1 c.1038+4366C>A - IntronicSNV - 6/8
15-51570853-G-A CYP19A1 c.1-35744C>T - IntronicSNV - 1/9
12-6091000-A-G VWF c.7239T>C p.Thr2413Thr Synonymous 42/52 -
4-148451834-G-A EDNRA c.421-5195G>A - IntronicSNV - 2/5
8-108476951-T-C ANGPT1 c.297+32539A>G - IntronicSNV - 1/8
8-108432779-G-T ANGPT1 c.298-73454C>A - IntronicSNV - 1/8
14-64759419-T-C ESR2 c.-91+1332A>G - intron_variant - 1/8
16-55543073-G-C LPCAT2 c.1-21G>C - 5-UTRSNV 1/14 -
9-130608296-T-C ENG c.68-2772A>G - IntronicSNV - 1/13
4-110902043-A-T EGF c.2283A>T p.Gly761Gly Synonymous 15/23 -
17-26105932-G-A NOS2 c.1155C>T p.Asp385Asp Synonymous 10/27 -
6-152199359-T-C ESR1 c.644-2431T>C - IntronicSNV - 2/7
12-6169198-T-C VWF c.1534-1988A>G - IntronicSNV - 13/51
7-100772139-C-T SERPINE1 c.271+194C>T - IntronicSNV - 2/8
2-203420712-G-A BMPR2 c.2324G>A p.Ser775Asn Missense 12/13 -
10-48413273-C-T GDF2 c.*305G>A - 3-UTRSNV 2/2 -
16-24202458-C-G PRKCB c.1770C>G p.Gly590Gly Synonymous 16/17 -
20-48127176-T-C PTGIS c.1358+389A>G - IntronicSNV - 9/9
1-153516160-T-G S100A4 c.*75A>C - 3-UTRSNV 3/3 -
16-23848988-T-G PRKCB c.205+261T>G - IntronicSNV - 2/16
9-130585031-T-C ENG c.1134+1552A>G - IntronicSNV - 8/13
3-119504763-G-C NR1I2 c.-23+3616G>C - intron_variant - 1/8
3-25491214-G-C RARB c.158-11470G>C - IntronicSNV - 1/7
22-46626506-G-A PPARA c.712-1183G>A - IntronicSNV - 6/7
15-67433941-T-A SMAD3 c.207-23292T>A - IntronicSNV - 1/8
14-64715794-A-G ESR2 c.1225+470T>C - IntronicSNV - 7/8
1-43784956-A-G TIE1 c.2973A>G p.Leu991Leu Synonymous 18/23 -
9-117805719-C-A TNC c.5126-1099G>T - IntronicSNV - 17/27
11-101411504-G-T TRPC6 c.171-35975C>A - IntronicSNV - 1/12
21-44481891-G-A CBS c.1039+530C>T - IntronicSNV - 11/16
14-70243813-T-G SLC10A1 c.944-708A>C - IntronicSNV - 4/4
3-25580776-C-T RARB c.449-30473C>T - IntronicSNV - 3/7
8-108291877-T-A ANGPT1 c.1205+5033A>T - IntronicSNV - 7/8
4-103427476-A-G NFKB1 c.-8+4531A>G - intron_variant - 1/23
17-28549898-G-C SLC6A4 c.-185C>G - 5_prime_UTR_variant 2/15 -
4-103427476-A-C NFKB1 c.-8+4531A>C - intron_variant - 1/23
17-28549898-G-T SLC6A4 c.-185C>A - 5_prime_UTR_variant 2/15 -
13-78474468-A-C EDNRB c.1085+188T>G - IntronicSNV - 6/7
12-6128984-T-C VWF c.3675-75A>G - IntronicSNV - 27/51
17-26111428-G-T NOS2 c.468-1296C>A - IntronicSNV - 5/26
17-26111428-G-C NOS2 c.468-1296C>G - IntronicSNV - 5/26
17-64676380-T-C PRKCA c.530-6849T>C - IntronicSNV - 5/16
6-161173946-T-G PLG c.2286T>G p.Gly762Gly Synonymous 19/19 -
16-55529411-G-A MMP2 c.1323-1427G>A - IntronicSNV - 9/12
17-64304309-T-A PRKCA c.205+2064T>A - IntronicSNV - 2/16
21-46929720-G-C COL18A1 c.4035+205G>C - IntronicSNV - 38/40
6-31947460-G-T STK19 c.803+130G>T - IntronicSNV - 5/7
3-12388563-A-C PPARG c.1-32642A>C - IntronicSNV - 1/6
17-61574492-G-C ACE c.3692-6G>C - IntronicSNV - 24/24
17-61574492-G-A ACE c.3692-6G>A - IntronicSNV - 24/24
14-64703593-G-A ESR2 c.1226-1725C>T - IntronicSNV - 7/8
9-130586624-C-G ENG c.1093G>C p.Asp365His Missense 8/14 -
1-43767138-G-A TIE1 c.58+338G>A - IntronicSNV - 1/22
12-6196183-C-T VWF c.657+8443G>A - IntronicSNV - 6/51
10-88518455-T-A BMPR1A c.-268+1779T>A - intron_variant - 1/12
10-88518455-T-G BMPR1A c.-268+1779T>G - intron_variant - 1/12
14-105257719-C-G AKT1 c.46+1216G>C - IntronicSNV - 2/13
1-21551457-A-G ECE1 c.2040+286T>C - IntronicSNV - 17/18
13-78484131-T-C EDNRB c.484-6389A>G - IntronicSNV - 2/7
11-18046493-A-G TPH1 c.930+629T>C - IntronicSNV - 8/10
13-78481000-C-A EDNRB c.484-3258G>T - IntronicSNV - 2/7
17-64779430-G-T PRKCA c.1606-3555G>T - IntronicSNV - 14/16
21-36191308-T-C RUNX1 c.724+15399A>G - IntronicSNV - 4/5
21-36191308-T-A RUNX1 c.724+15399A>T - IntronicSNV - 4/5
21-36216281-A-G RUNX1 c.533-9383T>C - IntronicSNV - 3/5
17-64518507-C-A PRKCA c.288+26106C>A - IntronicSNV - 3/16
11-89209985-G-A NOX4 c.153+13641C>T - IntronicSNV - 2/17
6-31545193-T-A TNF c.581T>A p.Ile194Asn Missense 4/4 -
3-12429468-G-C PPARG c.397-4645G>C - IntronicSNV - 3/6
3-12429468-G-A PPARG c.397-4645G>A - IntronicSNV - 3/6
20-36989269-C-T LBP c.589-89C>T - IntronicSNV - 5/14
1-43770583-C-T TIE1 c.120C>T p.Phe40Phe Synonymous 2/23 -
X-37644425-C-G CYBB c.252+1572C>G - IntronicSNV - 3/12
2-31630382-C-T XDH c.43-1552G>A - IntronicSNV - 1/35
6-152412904-G-T ESR1 c.1370-2616G>T - IntronicSNV - 6/7
4-26338978-C-T RBPJ c.20+16308C>T - IntronicSNV - 1/10
16-55519607-C-T MMP2 c.600C>T p.Thr200Thr Synonymous 5/13 -
17-26103034-C-T NOS2 c.1282-1557G>A - IntronicSNV - 11/26
8-108388674-G-A ANGPT1 c.298-29349C>T - IntronicSNV - 1/8
14-64727444-C-A ESR2 c.675G>T p.Gly225Gly Synonymous 5/9 -
X-100120495-A-G NOX1 c.142-1911T>C - IntronicSNV - 2/12
18-45369857-A-T SMAD2 c.1281-1536T>A - IntronicSNV - 10/10
12-72362265-C-G TPH2 c.609-4034C>G - IntronicSNV - 5/10
12-72362265-C-T TPH2 c.609-4034C>T - IntronicSNV - 5/10
7-50445412-A-G IKZF1 c.421+921A>G - intron_variant - 4/7
12-6081824-G-A VWF c.7438-949C>T - IntronicSNV - 43/51
15-67365622-A-G SMAD3 c.206+6924A>G - IntronicSNV - 1/8
11-89143306-A-G NOX4 c.630-7596T>C - IntronicSNV - 8/17
20-48129169-C-G PTGIS c.1206+448G>C - IntronicSNV - 8/9
9-21970427-A-G CDKN2A c.457+474T>C - IntronicSNV - 2/2
15-67412596-G-A SMAD3 c.207-44637G>A - IntronicSNV - 1/8
15-51548310-A-G CYP19A1 c.1-13201T>C - IntronicSNV - 1/9
1-27238150-A-G NR0B2 c.*186T>C - 3-UTRSNV 2/2 -
7-150708035-A-T NOS3 c.2945A>T p.Gln982Leu Missense 23/27 -
12-6120431-C-T VWF c.5842+352G>A - IntronicSNV - 34/51
21-36206884-G-A RUNX1 c.547C>T p.Leu183Leu Synonymous 4/6 -
15-67414425-A-G SMAD3 c.207-42808A>G - IntronicSNV - 1/8
15-39880822-A-C THBS1 c.1567A>C p.Thr523Pro Missense 10/22 -
4-103427476-A-T NFKB1 c.-8+4531A>T - intron_variant - 1/23
15-67361774-G-A SMAD3 c.206+3076G>A - IntronicSNV - 1/8
22-35789263-A-G HMOX1 c.737-198A>G - IntronicSNV - 4/4
12-72392290-C-A TPH2 c.1068+3945C>A - IntronicSNV - 8/10
6-152180241-A-T ESR1 c.643+16319A>T - IntronicSNV - 2/7
4-103537442-C-T NFKB1 c.2750-149C>T - IntronicSNV - 23/23
2-31617143-A-T XDH c.495+3391T>A - IntronicSNV - 6/35
4-26342052-T-C RBPJ c.20+19382T>C - IntronicSNV - 1/10
17-64428682-C-T PRKCA c.206-63637C>T - IntronicSNV - 2/16
12-6078125-T-A VWF c.7729+252A>T - IntronicSNV - 45/51
1-21577159-T-A ECE1 c.1021-3303A>T - IntronicSNV - 8/18
8-108283945-A-G ANGPT1 c.1206-7366T>C - IntronicSNV - 7/8
21-46903021-A-G COL18A1 c.2241+286A>G - IntronicSNV - 14/40
3-119536429-G-A NR1I2 c.*370G>A - 3-UTRSNV 9/9 -
9-117848112-A-T TNC c.1867+31T>A - IntronicSNV - 3/27
6-32007459-A-C CYP21A2 c.651+35A>C - IntronicSNV - 5/9
17-26107398-C-T NOS2 c.1004+395G>A - IntronicSNV - 9/26
3-12465243-C-A PPARG c.1186+6590C>A - IntronicSNV - 6/6
6-152305047-A-C ESR1 c.1097-27744A>C - IntronicSNV - 4/7
12-52306341-A-G ACVRL1 c.61+22A>G - IntronicSNV - 2/9
1-43779869-T-G TIE1 c.2409+230T>G - IntronicSNV - 14/22
2-31605447-C-T XDH c.1038+420G>A - IntronicSNV - 11/35
17-61570422-A-G ACE c.2913-375A>G - IntronicSNV - 19/24
16-24135112-T-A PRKCB c.919-44T>A - IntronicSNV - 8/16
16-24135112-T-C PRKCB c.919-44T>C - IntronicSNV - 8/16
11-89094890-T-G NOX4 c.1136-6679A>C - IntronicSNV - 12/17
11-89094890-T-A NOX4 c.1136-6679A>T - IntronicSNV - 12/17
12-100885739-G-A NR1H4 c.1-1363G>A - IntronicSNV - 1/10
12-6061491-A-G VWF c.8115+66T>C - IntronicSNV - 49/51
19-54390121-T-C PRKCG c.285+2624T>C - IntronicSNV - 3/17
2-31622804-G-A XDH c.307-1239C>T - IntronicSNV - 4/35
2-31622804-G-C XDH c.307-1239C>G - IntronicSNV - 4/35
15-67417608-G-A SMAD3 c.207-39625G>A - IntronicSNV - 1/8
12-52312944-T-C ACVRL1 c.1377+45T>C - IntronicSNV - 9/9
15-67425456-C-G SMAD3 c.207-31777C>G - IntronicSNV - 1/8
8-108432779-G-A ANGPT1 c.298-73454C>T - IntronicSNV - 1/8
15-67417608-G-T SMAD3 c.207-39625G>T - IntronicSNV - 1/8
17-64551407-C-A PRKCA c.288+59006C>A - IntronicSNV - 3/16
18-48571372-T-C SMAD4 c.1-2045T>C - IntronicSNV - 1/11
10-104157711-T-A NFKB2 c.662-27T>A - IntronicSNV - 8/22
5-78409396-T-C BHMT c.33+1655T>C - IntronicSNV - 1/7
9-130608296-T-G ENG c.68-2772A>C - IntronicSNV - 1/13
6-152257687-T-G ESR1 c.761-7621T>G - IntronicSNV - 3/7
21-46926297-C-A COL18A1 c.3756+417C>A - IntronicSNV - 36/40
6-161170835-A-G PLG c.2126-2312A>G - IntronicSNV - 17/18
2-203334572-A-G BMPR2 c.418+2160A>G - IntronicSNV - 3/12
4-103443569-G-A NFKB1 c.1-3107G>A - IntronicSNV - 1/23
2-31609993-G-A XDH c.652-572C>T - IntronicSNV - 8/35
10-88616114-C-G BMPR1A c.-153+17378C>G - intron_variant - 2/12
9-130586637-C-T ENG c.1080G>A p.Gln360Gln Synonymous 8/14 -
16-55534236-G-A MMP2 c.1619+1876G>A - IntronicSNV - 11/12
11-89217708-T-C NOX4 c.153+5918A>G - IntronicSNV - 2/17
6-152237618-G-T ESR1 c.761-27690G>T - IntronicSNV - 3/7
11-18056225-T-C TPH1 c.301+1281A>G - IntronicSNV - 3/10
17-64646156-G-A PRKCA c.529+4527G>A - IntronicSNV - 5/16
18-45379174-C-G SMAD2 c.731-1476G>C - IntronicSNV - 6/10
18-45379174-C-T SMAD2 c.731-1476G>A - IntronicSNV - 6/10
2-203408736-T-A BMPR2 c.1413+1566T>A - IntronicSNV - 10/12
16-55519535-G-C MMP2 c.528G>C p.Gly176Gly Synonymous 5/13 -
2-31626045-G-C XDH c.101-35C>G - IntronicSNV - 2/35
20-43804522-A-C PI3 c.100A>C p.Thr34Pro Missense 2/3 -
14-64727444-C-T ESR2 c.675G>A p.Gly225Gly Synonymous 5/9 -
17-26109571-C-T NOS2 c.630+399G>A - IntronicSNV - 6/26
1-11862214-T-C MTHFR c.236+724A>G - IntronicSNV - 2/11
14-62189531-T-C HIF1A c.457+990T>C - IntronicSNV - 4/14
15-67423306-C-T SMAD3 c.207-33927C>T - IntronicSNV - 1/8
21-46915042-A-G COL18A1 c.2973+213A>G - IntronicSNV - 27/40
17-26106675-A-G NOS2 c.1005-593T>C - IntronicSNV - 9/26
14-64727444-C-G ESR2 c.675G>C p.Gly225Gly Synonymous 5/9 -
21-46922436-A-G COL18A1 c.3224-1489A>G - IntronicSNV - 31/40
1-159684186-T-C CRP c.61+29A>G - IntronicSNV - 1/1
1-159684186-T-A CRP c.61+29A>T - IntronicSNV - 1/1
21-36232156-C-A RUNX1 c.428-281G>T - IntronicSNV - 2/5
21-36232156-C-T RUNX1 c.428-281G>A - IntronicSNV - 2/5
15-45405463-G-T DUOX2 c.74+73C>A - IntronicSNV - 2/33
7-116197579-G-C CAV1 c.196-1421G>C - IntronicSNV - 2/2
17-61566724-G-C ACE c.2641+231G>C - IntronicSNV - 17/24
4-110882039-T-A EGF c.1083T>A p.Ala361Ala Synonymous 7/23 -
4-110882039-T-C EGF c.1083T>C p.Ala361Ala Synonymous 7/23 -
4-110882039-T-G EGF c.1083T>G p.Ala361Ala Synonymous 7/23 -
17-26095730-A-C NOS2 c.2034+273T>G - IntronicSNV - 17/26
17-26095730-A-T NOS2 c.2034+273T>A - IntronicSNV - 17/26
8-108461828-T-C ANGPT1 c.297+47662A>G - IntronicSNV - 1/8
8-108461828-T-A ANGPT1 c.297+47662A>T - IntronicSNV - 1/8
20-48152675-T-C PTGIS c.673+3432A>G - IntronicSNV - 5/9
7-116197579-G-A CAV1 c.196-1421G>A - IntronicSNV - 2/2
9-130612383-C-A ENG c.67+4185G>T - IntronicSNV - 1/13
7-150693556-G-A NOS3 c.335G>A p.Arg112Gln Missense 4/27 -
16-23848988-T-C PRKCB c.205+261T>C - IntronicSNV - 2/16
15-51613529-G-A CYP19A1 c.-39+17163C>T - intron_variant - 1/9
7-150693556-G-C NOS3 c.335G>C p.Arg112Pro Missense 4/27 -
21-36188046-C-T RUNX1 c.725-16287G>A - IntronicSNV - 4/5
10-104156383-T-G NFKB2 c.145-99T>G - IntronicSNV - 4/22
6-152175357-T-C ESR1 c.643+11435T>C - IntronicSNV - 2/7
21-36172283-G-T RUNX1 c.725-524C>A - IntronicSNV - 4/5
21-36188046-C-G RUNX1 c.725-16287G>C - IntronicSNV - 4/5
14-64702217-A-T ESR2 c.1226-349T>A - IntronicSNV - 7/8
14-64702217-A-G ESR2 c.1226-349T>C - IntronicSNV - 7/8
15-67461311-T-C SMAD3 c.608-1581T>C - IntronicSNV - 4/8
4-148435446-C-T EDNRA c.421-21583C>T - IntronicSNV - 2/5
5-78409987-C-T BHMT c.34-1603C>T - IntronicSNV - 1/7
11-101448664-G-T TRPC6 c.170+5401C>A - IntronicSNV - 1/12
17-64440007-A-G PRKCA c.206-52312A>G - IntronicSNV - 2/16
15-67425456-C-T SMAD3 c.207-31777C>T - IntronicSNV - 1/8
15-67425456-C-A SMAD3 c.207-31777C>A - IntronicSNV - 1/8
10-104162770-G-C PSD c.*187C>G - 3-UTRSNV 18/18 -
10-104162770-G-A PSD c.*187C>T - 3-UTRSNV 18/18 -
16-24202458-C-T PRKCB c.1770C>T p.Gly590Gly Synonymous 16/17 -
16-24202458-C-A PRKCB c.1770C>A p.Gly590Gly Synonymous 16/17 -
21-36228360-C-T RUNX1 c.532+3411G>A - IntronicSNV - 3/5
20-36997632-T-C LBP c.982-7T>C - IntronicSNV - 9/14
14-62196948-T-C HIF1A c.774-2188T>C - IntronicSNV - 6/14
17-7534678-C-T SHBG c.554C>T p.Pro185Leu Missense 4/8 -
X-138617733-A-G F9 c.89-1436A>G - IntronicSNV - 1/7
2-231982826-G-A HTR2B c.353-4183C>T - IntronicSNV - 2/3
14-105259734-C-A AKT1 c.-350G>T - 5_prime_UTR_variant 1/14 -
17-7534678-C-A SHBG c.554C>A p.Pro185Gln Missense 4/8 -
4-103528817-T-G NFKB1 c.2136T>G p.His712Gln Missense 19/24 -
21-44491425-C-T CBS c.209+670G>A - IntronicSNV - 3/16
18-45403483-T-C SMAD2 c.237-6548A>G - IntronicSNV - 2/10
14-64710417-A-G ESR2 c.1225+5847T>C - IntronicSNV - 7/8
15-51549599-G-A CYP19A1 c.1-14490C>T - IntronicSNV - 1/9
7-100781615-G-A SERPINE1 c.*892G>A - 3-UTRSNV 9/9 -
21-36210100-C-T RUNX1 c.533-3202G>A - IntronicSNV - 3/5
11-89208854-T-C NOX4 c.153+14772A>G - IntronicSNV - 2/17
4-103528817-T-C NFKB1 c.2136T>C p.His712His Synonymous 19/24 -
16-55527422-T-C MMP2 c.1322+217T>C - IntronicSNV - 9/12
8-108472328-G-A ANGPT1 c.297+37162C>T - IntronicSNV - 1/8
11-89099263-C-T NOX4 c.1135+7337G>A - IntronicSNV - 12/17
12-72355179-A-G TPH2 c.609-11120A>G - IntronicSNV - 5/10
12-100874901-C-T NR1H4 c.-190+7064C>T - intron_variant - 1/10
12-100874901-C-A NR1H4 c.-190+7064C>A - intron_variant - 1/10
12-100874901-C-G NR1H4 c.-190+7064C>G - intron_variant - 1/10
20-36989096-G-A LBP c.589-262G>A - IntronicSNV - 5/14
8-108431161-T-C ANGPT1 c.298-71836A>G - IntronicSNV - 1/8
8-108366127-C-T ANGPT1 c.298-6802G>A - IntronicSNV - 1/8
1-21592392-A-G ECE1 c.494-5507T>C - IntronicSNV - 4/18
21-36241929-T-C RUNX1 c.428-10054A>G - IntronicSNV - 2/5
21-46929458-G-A COL18A1 c.3978G>A p.Leu1326Leu Synonymous 38/41 -
21-46929458-G-C COL18A1 c.3978G>C p.Leu1326Leu Synonymous 38/41 -
12-6063959-C-G VWF c.7888-1199G>C - IntronicSNV - 47/51
9-21971989-C-G CDKN2A c.151-782G>C - IntronicSNV - 1/2
22-46622384-T-C PPARA c.712-5305T>C - IntronicSNV - 6/7
22-46622384-T-G PPARA c.712-5305T>G - IntronicSNV - 6/7
10-88538911-C-G BMPR1A c.-268+22235C>G - intron_variant - 1/12
17-61573761-T-G ACE c.3387T>G p.Phe1129Leu Missense 23/25 -
6-161137990-G-A PLG c.787+195G>A - IntronicSNV - 7/18
6-160103084-C-T SOD2 c.*441G>A - 3-UTRSNV 5/5 -
17-64431594-C-A PRKCA c.206-60725C>A - IntronicSNV - 2/16
10-88617392-T-C BMPR1A c.1-18384T>C - IntronicSNV - 2/12
15-51646737-G-A GLDN c.363+12493G>A - IntronicSNV - 1/9
11-18053545-C-T TPH1 c.402+1276G>A - IntronicSNV - 4/10
3-25575675-C-T RARB c.448+32861C>T - IntronicSNV - 3/7
4-120438731-T-C PDE5A c.2000+1469A>G - IntronicSNV - 14/20
6-152157881-C-T ESR1 c.453-5851C>T - IntronicSNV - 1/7
9-21968199-C-A CDKN2A c.*29G>T - 3-UTRSNV 3/3 -
9-21968199-C-G CDKN2A c.*29G>C - 3-UTRSNV 3/3 -
21-36246252-G-T RUNX1 c.427+6602C>A - IntronicSNV - 2/5
3-8775661-C-A CAV3 c.99C>A p.Asn33Lys Missense 1/2 -
8-108271112-A-C ANGPT1 c.1336+5337T>G - IntronicSNV - 8/8
4-103450083-A-T NFKB1 c.40-910A>T - IntronicSNV - 2/23
4-103450083-A-G NFKB1 c.40-910A>G - IntronicSNV - 2/23
15-67476318-G-C SMAD3 c.872-747G>C - IntronicSNV - 6/8
20-48174450-G-T PTGIS c.75-7724C>A - IntronicSNV - 1/9
7-100771723-G-A SERPINE1 c.49G>A p.Val17Ile Missense 2/9 -
6-152199931-G-A ESR1 c.644-1859G>A - IntronicSNV - 2/7
18-45382605-A-T SMAD2 c.731-4907T>A - IntronicSNV - 6/10
18-45382605-A-C SMAD2 c.731-4907T>G - IntronicSNV - 6/10
3-25599575-G-C RARB c.449-11674G>C - IntronicSNV - 3/7
11-89133413-G-A NOX4 c.981C>T p.Val327Val Synonymous 10/18 -
11-89133413-G-C NOX4 c.981C>G p.Val327Val Synonymous 10/18 -
11-89133413-G-T NOX4 c.981C>A p.Val327Val Synonymous 10/18 -
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
21-44473691-C-T CBS c.*299G>A - 3-UTRSNV 17/17 -
7-100777267-T-C SERPINE1 c.899+93T>C - IntronicSNV - 5/8
1-43785768-G-T TIE1 c.3107+568G>T - IntronicSNV - 19/22
21-33040162-C-T SOD1 c.357+474C>T - IntronicSNV - 4/4
9-117812400-A-G TNC c.4580-1589T>C - IntronicSNV - 15/27
18-48560325-A-G SMAD4 c.-128+3332A>G - intron_variant - 1/11
3-25625821-G-A RARB c.786+3608G>A - IntronicSNV - 5/7
14-70245193-G-A SLC10A1 c.800C>T p.Ser267Phe Missense 4/5 -
8-108390053-T-C ANGPT1 c.298-30728A>G - IntronicSNV - 1/8
6-160100640-A-T SOD2 c.*2885T>A - IntergenicSNV 5/5 -
8-108495057-C-T ANGPT1 c.297+14433G>A - IntronicSNV - 1/8
11-18047255-G-A TPH1 c.804-7C>T - IntronicSNV - 7/10
10-104154683-C-T NFKB2 c.-73+152C>T - intron_variant - 1/22
7-116198001-A-G CAV1 c.196-999A>G - IntronicSNV - 2/2
X-37641422-AGA-TGG CYBB c.127_129delAGAinsTGG p.Arg43Trp Missense 2/13 -
21-46897859-C-T COL18A1 c.1741C>T p.Pro581Ser Missense 7/41 -
15-67446831-G-A SMAD3 c.207-10402G>A - IntronicSNV - 1/8
21-46919132-G-A COL18A1 c.3223+1557G>A - IntronicSNV - 31/40
2-31576074-C-G XDH c.2632-2985G>C - IntronicSNV - 24/35
3-25614448-G-A RARB c.609+3039G>A - IntronicSNV - 4/7
19-49459104-A-G BAX c.86+248A>G - IntronicSNV - 2/4
8-108396003-C-T ANGPT1 c.298-36678G>A - IntronicSNV - 1/8
20-43803725-T-G PI3 c.79+83T>G - IntronicSNV - 1/2
20-43803725-T-A PI3 c.79+83T>A - IntronicSNV - 1/2
15-45425864-G-A DUOX1 c.59-198G>A - IntronicSNV - 3/34
20-48121978-A-G PTGIS c.*2479T>C - 3-UTRSNV 10/10 -
7-116177825-G-A CAV1 c.195+11082G>A - IntronicSNV - 2/2
15-67435075-G-A SMAD3 c.207-22158G>A - IntronicSNV - 1/8
6-152284821-T-A ESR1 c.1096+19178T>A - IntronicSNV - 4/7
15-45444518-A-G DUOX1 c.3228A>G p.Thr1076Thr Synonymous 26/35 -
15-45444518-A-T DUOX1 c.3228A>T p.Thr1076Thr Synonymous 26/35 -
X-37669694-A-G CYBB c.1587-350A>G - IntronicSNV - 12/12
12-6153534-T-G VWF c.2365A>C p.Thr789Pro Missense 18/52 -
3-25544118-G-A RARB c.448+1304G>A - IntronicSNV - 3/7
3-12370083-A-G PPARG c.-3+40564A>G - intron_variant - 1/6
11-18044648-A-G TPH1 c.1027-170T>C - IntronicSNV - 9/10
2-231993038-A-T PSMD1 c.1884-10412A>T - IntronicSNV - 16/23
17-61563458-A-C ACE c.2059-460A>C - IntronicSNV - 13/24
17-61563458-A-G ACE c.2059-460A>G - IntronicSNV - 13/24
21-36213879-T-C RUNX1 c.533-6981A>G - IntronicSNV - 3/5