PMID: 25171760

Pharmacogenetic effects of 'candidate gene complexes' on stroke in the GenHAT study.

Pharmacogenetics and genomics
IF Sørensen, AI Vazquez, MR Irvin, P Sørensen, BR Davis, CE Ford, E Boerwinkle, JH Eckfeldt, DK Arnett
2014-11

496 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-10385540-A-T ICAM1 c.167A>T p.Lys56Met Missense 2/7 -
16-23226949-T-G SCNN1G c.*159T>G - 3-UTRSNV 13/13 -
5-148206646-G-C ADRB2 c.252G>C p.Leu84Leu Synonymous 1/1 -
5-148206646-G-A ADRB2 c.252G>A p.Leu84Leu Synonymous 1/1 -
3-23454790-A-G UBE2E2 c.228-86309A>G - IntronicSNV - 3/5
9-13112024-C-T MPDZ c.5636G>A p.Arg1879Lys Missense 42/46 -
10-106705773-G-C SORCS3 c.795+30083G>C - IntronicSNV - 3/26
10-53415680-C-T PRKG1 c.548-148665C>T - IntronicSNV - 3/17
1-11905981-A-G NPPA c.*85T>C - 3-UTRSNV 3/3 -
5-148207053-C-T ADRB2 c.659C>T p.Ser220Phe Missense 1/1 -
20-48130982-C-T PTGIS c.856-50G>A - IntronicSNV - 6/9
20-48130982-C-G PTGIS c.856-50G>C - IntronicSNV - 6/9
12-6482786-G-A SCNN1A c.416+748C>T - IntronicSNV - 2/12
9-13224491-G-A MPDZ c.275C>T p.Ser92Leu Missense 4/46 -
10-106708297-C-A SORCS3 c.796-28796C>A - IntronicSNV - 3/26
17-26100321-A-G NOS2 c.1477-52T>C - IntronicSNV - 12/26
3-111680469-C-T PHLDB2 c.2744-486C>T - IntronicSNV - 11/16
12-697633-G-C NINJ2 c.34-22289C>G - intron_variant - 1/3
9-136509370-G-T DBH c.952G>T p.Ala318Ser Missense 5/12 -
12-673515-T-C NINJ2 c.*351A>G - 3_prime_UTR_variant 4/4 -
22-24834564-G-C ADORA2A c.333-1987G>C - IntronicSNV - 2/2
3-148450912-C-T AGTR1 c.1-7911C>T - IntronicSNV - 2/2
15-63866584-C-A USP3 c.946C>A p.Pro316Thr Missense 10/14 -
12-81052353-T-C PTPRQ c.5736+513T>C - intron_variant - 41/46
15-45457349-A-G DUOX1 c.*250A>G - 3-UTRSNV 35/35 -
20-48130628-T-A PTGIS c.1024+136A>T - IntronicSNV - 7/9
20-48130628-T-C PTGIS c.1024+136A>G - IntronicSNV - 7/9
9-13224491-G-C MPDZ c.275C>G p.Ser92Trp Missense 4/46 -
3-148439788-G-A AGTR1 c.-48+13974G>A - intron_variant - 2/2
22-36695942-C-T MYH9 c.2976+231G>A - IntronicSNV - 23/40
13-75866284-G-A TBC1D4 c.3440C>T p.Thr1147Met Missense 19/21 -
20-48167203-G-T PTGIS c.75-477C>A - IntronicSNV - 1/9
3-148437427-T-A AGTR1 c.-48+11613T>A - intron_variant - 2/2
19-49477474-T-C GYS1 c.1545A>G p.Thr515Thr Synonymous 12/16 -
22-36702892-T-C MYH9 c.1844-239A>G - IntronicSNV - 15/40
5-475104-A-T SLC9A3 c.2395T>A p.Cys799Ser Missense 16/17 -
5-475104-A-G SLC9A3 c.2395T>C p.Cys799Arg Missense 16/17 -
7-150689943-G-A NOS3 c.1-949G>A - IntronicSNV - 1/26
7-150689943-G-C NOS3 c.1-949G>C - IntronicSNV - 1/26
12-683946-G-C NINJ2 c.34-8602C>G - intron_variant - 1/3
10-106494461-G-T SORCS3 c.627+92749G>T - IntronicSNV - 1/26
1-243806438-G-C AKT3 c.429+2757C>G - IntronicSNV - 4/13
4-2868514-G-A ADD1 c.1-9129G>A - IntronicSNV - 1/14
19-10394792-G-A ICAM1 c.721G>A p.Gly241Arg Missense 4/7 -
9-136508658-G-A DBH c.868G>A p.Asp290Asn Missense 4/12 -
12-770929-G-T NINJ2 c.33+1565C>A - intron_variant - 1/3
15-48555729-T-C SLC12A1 c.2155-4029T>C - IntronicSNV - 17/26
15-48528113-G-C SLC12A1 c.1215+912G>C - IntronicSNV - 9/26
15-48528113-G-A SLC12A1 c.1215+912G>A - IntronicSNV - 9/26
5-126633827-C-T MEGF10 c.-69-1861C>T - intron_variant - 1/25
8-82751929-G-A SNX16 c.293C>T p.Pro98Leu Missense 3/9 -
3-32451697-C-A CMTM7 c.159+18140C>A - IntronicSNV - 1/4
10-106924979-G-A SORCS3 c.1809+842G>A - IntronicSNV - 12/26
10-106924979-G-C SORCS3 c.1809+842G>C - IntronicSNV - 12/26
10-106924979-G-T SORCS3 c.1809+842G>T - IntronicSNV - 12/26
1-11907648-C-T NPPA c.94G>A p.Val32Met Missense 1/3 -
19-3159769-A-G GNA15 c.898+1890A>G - IntronicSNV - 6/6
1-11906068-A-G NPPA c.454T>C - Missense 3/3 -
1-2026749-A-G PRKCZ c.334+35719A>G - IntronicSNV - 4/17
1-27470883-A-G SLC9A1 c.352+9591T>C - IntronicSNV - 1/11
10-106885045-A-G SORCS3 c.1213-14110A>G - IntronicSNV - 7/26
1-230844196-C-A AGT c.856+1545G>T - IntronicSNV - 2/4
1-230844196-C-G AGT c.856+1545G>C - IntronicSNV - 2/4
1-230844196-C-T AGT c.856+1545G>A - IntronicSNV - 2/4
16-23227362-A-G SCNN1G c.*572A>G - 3-UTRSNV 13/13 -
X-39940000-C-T BCOR c.1-2818G>A - IntronicSNV - 1/14
19-49485758-C-T GYS1 c.942-126G>A - IntronicSNV - 6/15
14-66136163-C-A FUT8 c.311C>A p.Thr104Lys Missense 6/10 -
20-48177784-G-A PTGIS c.74+6796C>T - IntronicSNV - 1/9
22-36708483-G-A MYH9 c.1555-216C>T - IntronicSNV - 13/40
5-82811500-A-T VCAN c.1042+3285A>T - IntronicSNV - 6/14
6-131967033-G-C ENPP3 c.155-4134G>C - IntronicSNV - 2/24
6-131967033-G-A ENPP3 c.155-4134G>A - IntronicSNV - 2/24
12-700675-G-T NINJ2 c.34-25331C>A - intron_variant - 1/3
20-48130328-C-T PTGIS c.1024+436G>A - IntronicSNV - 7/9
20-48130328-C-G PTGIS c.1024+436G>C - IntronicSNV - 7/9
11-13517404-A-G PTH c.-6+54T>C - intron_variant - 1/2
11-41146499-A-G LRRC4C c.-327+334482T>C - intron_variant - 1/4
12-771790-G-A NINJ2 c.33+704C>T - intron_variant - 1/3
1-41948854-C-T EDN2 c.222-595G>A - IntronicSNV - 2/4
22-36708483-G-T MYH9 c.1555-216C>A - IntronicSNV - 13/40
9-13190162-T-A MPDZ c.2105A>T p.Glu702Val Missense 16/46 -
10-106603824-G-A SORCS3 c.695+1207G>A - IntronicSNV - 2/26
16-23219210-T-G SCNN1G c.1078-1861T>G - IntronicSNV - 6/12
10-106763703-C-T SORCS3 c.954+26452C>T - IntronicSNV - 4/26
3-148454214-A-C AGTR1 c.1-4609A>C - IntronicSNV - 1/2
5-82811500-A-G VCAN c.1042+3285A>G - IntronicSNV - 6/14
6-131967033-G-T ENPP3 c.155-4134G>T - IntronicSNV - 2/24
16-56944727-C-T SLC12A3 c.2952-2449C>T - IntronicSNV - 25/25
12-700675-G-C NINJ2 c.34-25331C>G - intron_variant - 1/3
11-17408831-G-T KCNJ11 c.808C>A p.Leu270Met Missense 1/1 -
11-17408831-G-C KCNJ11 c.808C>G p.Leu270Val Missense 1/1 -
12-721030-C-T NINJ2 c.34-45686G>A - intron_variant - 1/3
12-721030-C-A NINJ2 c.34-45686G>T - intron_variant - 1/3
1-246089811-G-C SMYD3 c.525+1422C>G - IntronicSNV - 7/11
1-246089811-G-A SMYD3 c.525+1422C>T - IntronicSNV - 7/11
4-77175743-A-G FAM47E c.75-1588A>G - IntronicSNV - 1/7
16-23341595-A-G SCNN1B c.1-18326A>G - IntronicSNV - 1/12
4-173764577-C-A GALNTL6 c.923+29703C>A - IntronicSNV - 7/12
10-106783742-C-A SORCS3 c.955-19071C>A - IntronicSNV - 4/26
10-106783742-C-T SORCS3 c.955-19071C>T - IntronicSNV - 4/26
15-63886379-G-C USP3 c.*3354G>C - 3-UTRSNV 14/14 -
4-173764577-C-T GALNTL6 c.923+29703C>T - IntronicSNV - 7/12
10-106860337-A-G SORCS3 c.1094-4818A>G - IntronicSNV - 6/26
9-136522187-A-G DBH c.1563-5A>G - IntronicSNV - 10/11
9-13123295-T-C MPDZ c.4810A>G p.Thr1604Ala Missense 36/46 -
12-707660-C-T NINJ2 c.34-32316G>A - intron_variant - 1/3
9-136520282-G-A DBH c.1435-1363G>A - IntronicSNV - 9/11
9-136520282-G-C DBH c.1435-1363G>C - IntronicSNV - 9/11
16-23366422-G-C SCNN1B c.586-198G>C - IntronicSNV - 3/12
3-32446465-G-A CMTM7 c.159+12908G>A - IntronicSNV - 1/4
13-108281921-G-A FAM155A c.915+236109C>T - IntronicSNV - 1/2
10-97385242-A-G ALDH18A1 c.1153-30T>C - IntronicSNV - 10/17
3-32490894-G-A CMTM7 c.334-52G>A - IntronicSNV - 2/4
12-21526651-G-A IAPP c.80+286G>A - IntronicSNV - 2/2
16-20352756-A-G UMOD c.1332-98T>C - IntronicSNV - 6/10
3-23385877-G-A UBE2E2 c.227+127074G>A - IntronicSNV - 3/5
3-23385877-G-C UBE2E2 c.227+127074G>C - IntronicSNV - 3/5
10-106571525-C-T SORCS3 c.628-31025C>T - IntronicSNV - 1/26
6-12294862-T-C EDN1 c.533+225T>C - IntronicSNV - 4/4
10-106571525-C-A SORCS3 c.628-31025C>A - IntronicSNV - 1/26
2-165427825-G-C GRB14 c.325-23499C>G - IntronicSNV - 2/13
X-65413981-A-T HEPH c.1531+501A>T - IntronicSNV - 8/20
1-160090202-G-A ATP1A2 c.13-494G>A - IntronicSNV - 1/22
7-150707488-C-T NOS3 c.2685+113C>T - IntronicSNV - 21/26
16-56939480-T-G SLC12A3 c.2951+1106T>G - IntronicSNV - 25/25
11-10327547-C-G ADM c.150C>G p.Ser50Arg Missense 3/4 -
12-768874-T-C NINJ2 c.33+3620A>G - intron_variant - 1/3
3-32491084-T-C CMTM7 c.432+40T>C - IntronicSNV - 3/4
3-32491084-T-A CMTM7 c.432+40T>A - IntronicSNV - 3/4
17-26096597-G-A NOS2 c.1823C>T p.Ser608Leu Missense 16/27 -
3-99385698-A-T COL8A1 c.-190-8806A>T - intron_variant - 1/4
10-106993770-C-T SORCS3 c.2868+10763C>T - IntronicSNV - 20/26
15-33954652-C-T RYR3 c.4921C>T p.Arg1641Cys Missense 35/104 -
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
3-17394615-A-G TBC1D5 c.995+18952T>C - IntronicSNV - 13/21
12-683946-G-A NINJ2 c.34-8602C>T - intron_variant - 1/3
12-102042213-C-G MYBPC1 c.1121+285C>G - IntronicSNV - 12/29
3-32472734-G-A CMTM7 c.160-10598G>A - IntronicSNV - 1/4
10-67790146-G-C CTNNA3 c.2159+38920C>G - IntronicSNV - 15/17
3-32472734-G-C CMTM7 c.160-10598G>C - IntronicSNV - 1/4
10-106596095-A-T SORCS3 c.628-6455A>T - IntronicSNV - 1/26
3-148441620-G-A AGTR1 c.-48+15806G>A - intron_variant - 2/2
15-48505080-C-T SLC12A1 c.420+4744C>T - IntronicSNV - 2/26
12-707660-C-G NINJ2 c.34-32316G>C - intron_variant - 1/3
1-160095127-T-A ATP1A2 c.748+84T>A - IntronicSNV - 7/22
X-37504140-C-G LANCL3 c.574-10801C>G - IntronicSNV - 1/5
1-230838331-G-T AGT c.*556C>A - 3-UTRSNV 5/5 -
17-61560033-G-A ACE c.1325G>A p.Arg442His Missense 8/25 -
1-117552560-T-C CD101 c.132T>C p.Asn44Asn Synonymous 2/10 -
17-61560033-G-C ACE c.1325G>C p.Arg442Pro Missense 8/25 -
17-61574662-C-T ACE c.3856C>T p.Arg1286Cys Missense 25/25 -
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
1-160097666-G-A ATP1A2 c.1017+56G>A - IntronicSNV - 8/22
1-230849482-C-T AGT c.-4+350G>A - intron_variant - 1/4
3-165548529-T-C BCHE c.293A>G p.Asp98Gly Missense 2/4 -
10-106554691-T-G SORCS3 c.628-47859T>G - IntronicSNV - 1/26
22-36715274-A-G MYH9 c.1108+311T>C - IntronicSNV - 10/40
10-106964794-A-G SORCS3 c.2261+3783A>G - IntronicSNV - 16/26
16-23221379-T-C SCNN1G c.1176+210T>C - IntronicSNV - 7/12
1-230840942-G-A AGT c.1124+737C>T - IntronicSNV - 3/4
17-61564522-T-C ACE c.2305+88T>C - IntronicSNV - 15/24
4-2930864-C-T ADD1 c.*614C>T - 3-UTRSNV 15/15 -
3-32473822-T-G CMTM7 c.160-9510T>G - IntronicSNV - 1/4
3-32473822-T-C CMTM7 c.160-9510T>C - IntronicSNV - 1/4
3-32473822-T-A CMTM7 c.160-9510T>A - IntronicSNV - 1/4
15-63814640-G-A USP3 c.92-10206G>A - IntronicSNV - 1/13
10-106404573-G-C SORCS3 c.627+2861G>C - IntronicSNV - 1/26
1-6279370-G-C RNF207 c.1808G>C p.Gly603Ala Missense 18/18 -
1-27475785-G-A SLC9A1 c.352+4689C>T - IntronicSNV - 1/11
16-23196591-T-C SCNN1G c.1-1002T>C - IntronicSNV - 1/12
3-43626375-G-A ANO10 c.473-4411C>T - IntronicSNV - 4/12
1-11079077-A-G TARDBP c.543+147A>G - IntronicSNV - 4/5
15-31829707-C-T OTUD7A c.551-6696G>A - IntronicSNV - 6/13
16-23206290-T-A SCNN1G c.913+695T>A - IntronicSNV - 5/12
6-12295987-C-T EDN1 c.534-208C>T - IntronicSNV - 4/4
13-48955458-C-A RB1 c.1574C>A p.Ala525Asp Missense 17/27 -
13-48955458-C-G RB1 c.1574C>G p.Ala525Gly Missense 17/27 -
1-230846679-T-C AGT c.1-83A>G - IntronicSNV - 1/4
16-23336967-A-G SCNN1B c.1-22954A>G - IntronicSNV - 1/12
3-188075185-C-A LPP c.1-48724C>A - IntronicSNV - 2/10
3-188075185-C-T LPP c.1-48724C>T - IntronicSNV - 2/10
17-9392700-T-A STX8 c.541+2446A>T - IntronicSNV - 6/7
9-136514539-T-G DBH c.1191+1405T>G - IntronicSNV - 6/11
15-33873751-G-A RYR3 c.1480G>A p.Val494Ile Missense 14/104 -
17-9392700-T-C STX8 c.541+2446A>G - IntronicSNV - 6/7
1-35260769-C-T GJA4 c.955C>T p.Pro319Ser Missense 2/2 -
10-106834164-G-A SORCS3 c.1029-15369G>A - IntronicSNV - 5/26
1-29272057-C-A EPB41 c.-714-41886C>A - intron_variant - 1/20
15-45698793-T-G SPATA5L1 c.1275+1090T>G - IntronicSNV - 2/7
15-45698793-T-A SPATA5L1 c.1275+1090T>A - IntronicSNV - 2/7
6-12296255-G-T EDN1 c.594G>T p.Lys198Asn Missense 5/5 -
1-204128567-C-T REN c.649G>A p.Gly217Arg Missense 5/10 -
12-705338-A-T NINJ2 c.34-29994T>A - intron_variant - 1/3
5-177991258-C-T COL23A1 c.295-3509G>A - IntronicSNV - 1/28
22-36710183-T-C MYH9 c.1554+7A>G - IntronicSNV - 13/40
10-106557944-G-A SORCS3 c.628-44606G>A - IntronicSNV - 1/26
3-148432574-A-G AGTR1 c.-48+6760A>G - intron_variant - 2/2
3-148432574-A-C AGTR1 c.-48+6760A>C - intron_variant - 2/2
4-2906707-G-T ADD1 c.1378G>T p.Gly460Trp Missense 10/15 -
15-48584083-A-C SLC12A1 c.2960+22A>C - IntronicSNV - 24/26
1-169099483-A-G ATP1B1 c.648+155A>G - IntronicSNV - 5/5
16-56930251-T-C SLC12A3 c.2660+1697T>C - IntronicSNV - 22/25
10-106766194-T-C SORCS3 c.954+28943T>C - IntronicSNV - 4/26
10-50951210-G-A OGDHL c.1862-186C>T - IntronicSNV - 14/22
10-106685341-C-T SORCS3 c.795+9651C>T - IntronicSNV - 3/26
20-10644614-C-T JAG1 c.436G>A p.Val146Ile Missense 3/26 -
12-697095-C-T NINJ2 c.34-21751G>A - intron_variant - 1/3
10-106454672-T-C SORCS3 c.627+52960T>C - IntronicSNV - 1/26
12-697095-C-G NINJ2 c.34-21751G>C - intron_variant - 1/3
10-106454672-T-G SORCS3 c.627+52960T>G - IntronicSNV - 1/26
15-63809990-A-G USP3 c.91+12961A>G - IntronicSNV - 1/13
1-155349541-A-G ASH1L c.6177+293T>C - IntronicSNV - 8/27
20-48149687-C-T PTGIS c.673+6420G>A - IntronicSNV - 5/9
10-106957053-A-G SORCS3 c.2010-2704A>G - IntronicSNV - 14/26
16-23221379-T-G SCNN1G c.1176+210T>G - IntronicSNV - 7/12
3-148432213-C-T AGTR1 c.-48+6399C>T - intron_variant - 2/2
15-48521115-T-G SLC12A1 c.725-271T>G - IntronicSNV - 5/26
17-26115949-T-C NOS2 c.204A>G p.Pro68Pro Synonymous 4/27 -
4-77660162-G-A SHROOM3 c.836G>A p.Gly279Asp Missense 5/11 -
20-10633313-T-A JAG1 c.756-67A>T - IntronicSNV - 5/25
16-67993643-T-C SLC12A4 c.343-1696A>G - IntronicSNV - 3/23
4-77660162-G-C SHROOM3 c.836G>C p.Gly279Ala Missense 5/11 -
12-6467961-A-G SCNN1A c.876-2915T>C - IntronicSNV - 4/12
15-63816498-C-T USP3 c.92-8348C>T - IntronicSNV - 1/13
12-129730186-T-C TMEM132D c.1300-35978A>G - IntronicSNV - 4/8
17-26104622-T-A NOS2 c.1281+1094A>T - IntronicSNV - 11/26
1-41945902-C-T EDN2 c.444-729G>A - IntronicSNV - 4/4
8-119498112-A-G SAMD12 c.193-45912T>C - IntronicSNV - 2/3
3-120119479-T-C FSTL1 c.806-673A>G - IntronicSNV - 9/10
10-106945236-T-C SORCS3 c.2009+7305T>C - IntronicSNV - 14/26
17-26109102-G-A NOS2 c.661C>T p.Arg221Trp Missense 7/27 -
22-36712472-A-G MYH9 c.1380+90T>C - IntronicSNV - 12/40
15-63846178-T-C USP3 c.236+181T>C - IntronicSNV - 3/13
19-51323473-C-G KLK1 c.433G>C p.Glu145Gln Missense 3/5 -
4-2915369-G-T ADD1 c.1699-1242G>T - IntronicSNV - 12/14
4-2916762-C-T ADD1 c.1850C>T p.Ser617Phe Missense 13/15 -
15-48593251-T-G SLC12A1 c.3097-261T>G - IntronicSNV - 25/26
4-2916762-C-G ADD1 c.1850C>G p.Ser617Cys Missense 13/15 -
16-83764204-T-C CDH13 c.1539-17509T>C - IntronicSNV - 10/13
16-23336365-C-A SCNN1B c.-9+22607C>A - intron_variant - 1/12
11-13517404-A-T PTH c.-6+54T>A - intron_variant - 1/2
20-48155767-T-C PTGIS c.673+340A>G - IntronicSNV - 5/9
12-771790-G-T NINJ2 c.33+704C>A - intron_variant - 1/3
15-48570137-A-T SLC12A1 c.2485+3287A>T - IntronicSNV - 20/26
12-713153-G-A NINJ2 c.34-37809C>T - intron_variant - 1/3
1-99365922-C-T PLPPR5 c.934-7262G>A - IntronicSNV - 5/5
1-204132816-G-C REN c.99-1525C>G - IntronicSNV - 1/9
1-204132816-G-A REN c.99-1525C>T - IntronicSNV - 1/9
X-148064903-G-A AFF2 c.3623+2583G>A - IntronicSNV - 19/20
1-204131594-A-C REN c.99-303T>G - IntronicSNV - 1/9
13-75861001-A-G TBC1D4 c.3824T>C p.Val1275Ala Missense 21/21 -
11-46787573-T-C CKAP5 c.3412-767A>G - IntronicSNV - 27/42
10-106656680-C-G SORCS3 c.696-18911C>G - IntronicSNV - 2/26
1-53396842-T-G SCP2 c.69+3705T>G - IntronicSNV - 1/15
1-53396842-T-C SCP2 c.69+3705T>C - IntronicSNV - 1/15
9-27524731-A-T IFNK c.397A>T p.Lys133* Nonsense 1/2 -
7-95162010-A-G ASB4 c.979-3739A>G - IntronicSNV - 3/4
3-32456946-C-T CMTM7 c.159+23389C>T - IntronicSNV - 1/4
22-36684722-G-A MYH9 c.4770+51C>T - IntronicSNV - 33/40
1-160090202-G-C ATP1A2 c.13-494G>C - IntronicSNV - 1/22
3-32451345-G-A CMTM7 c.159+17788G>A - IntronicSNV - 1/4
3-148430767-G-A AGTR1 c.-48+4953G>A - intron_variant - 2/2
9-27524731-A-G IFNK c.397A>G p.Lys133Glu Missense 1/2 -
3-32447305-C-T CMTM7 c.159+13748C>T - IntronicSNV - 1/4
12-6458350-A-G SCNN1A c.1477T>C p.Trp493Arg Missense 10/13 -
15-63841675-G-A USP3 c.153-4239G>A - IntronicSNV - 2/13
3-32453534-G-C CMTM7 c.159+19977G>C - IntronicSNV - 1/4
10-106529564-A-G SORCS3 c.628-72986A>G - IntronicSNV - 1/26
12-42863262-A-G PRICKLE1 c.374T>C p.Val125Ala Missense 4/8 -
15-71191609-A-G LRRC49 c.194-1652A>G - IntronicSNV - 3/15
9-136515330-C-T DBH c.1192-1426C>T - IntronicSNV - 6/11
16-23227026-C-T SCNN1G c.*236C>T - 3-UTRSNV 13/13 -
15-48567477-C-T SLC12A1 c.2485+627C>T - IntronicSNV - 20/26
17-26111428-G-T NOS2 c.468-1296C>A - IntronicSNV - 5/26
3-32445089-C-T CMTM7 c.159+11532C>T - IntronicSNV - 1/4
17-26111428-G-C NOS2 c.468-1296C>G - IntronicSNV - 5/26
3-138401299-A-C PIK3CB c.962-412T>G - IntronicSNV - 7/12
22-36707661-A-G MYH9 c.1728+433T>C - IntronicSNV - 14/40
3-138401299-A-G PIK3CB c.962-412T>C - IntronicSNV - 7/12
20-48131301-G-A PTGIS c.856-369C>T - IntronicSNV - 6/9
16-56938290-G-A SLC12A3 c.2884-17G>A - IntronicSNV - 24/25
16-56920910-G-C SLC12A3 c.2083G>C p.Gly695Arg Missense 17/26 -
15-48542330-G-A SLC12A1 c.1786+457G>A - IntronicSNV - 14/26
16-56933519-G-A SLC12A3 c.2738G>A p.Arg913Gln Missense 23/26 -
16-23200761-T-C SCNN1G c.387T>C p.Tyr129Tyr Synonymous 3/13 -
6-16649641-A-C ATXN1 c.-489+8366T>G - intron_variant - 4/8
3-148427034-T-C AGTR1 c.-48+1220T>C - intron_variant - 2/2
10-106411646-G-A SORCS3 c.627+9934G>A - IntronicSNV - 1/26
16-56921840-G-T SLC12A3 c.2182G>T p.Ala728Ser Missense 18/26 -
13-94007574-G-A GPC6 c.160+127705G>A - IntronicSNV - 1/8
15-63814640-G-T USP3 c.92-10206G>T - IntronicSNV - 1/13
13-48919923-T-C RB1 c.500+588T>C - IntronicSNV - 4/26
6-12925936-C-A PHACTR1 c.251-127661C>A - IntronicSNV - 4/14
12-21529150-G-T IAPP c.81-2021G>T - IntronicSNV - 2/2
19-10385417-C-T ICAM1 c.68-24C>T - IntronicSNV - 1/6
10-106866289-A-G SORCS3 c.1212+1016A>G - IntronicSNV - 7/26
17-26100144-T-G NOS2 c.1559+43A>C - IntronicSNV - 13/26
7-95162010-A-T ASB4 c.979-3739A>T - IntronicSNV - 3/4
10-106731970-G-A SORCS3 c.796-5123G>A - IntronicSNV - 3/26
12-751308-T-G NINJ2 c.33+21186A>C - intron_variant - 1/3
19-10385540-A-G ICAM1 c.167A>G p.Lys56Arg Missense 2/7 -
5-174870150-C-T DRD1 c.1-48G>A - 5-UTRSNV 2/2 -
15-45707914-A-G SPATA5L1 c.1774A>G p.Asn592Asp Missense 5/8 -
8-52714523-C-A PXDNL c.164+7218G>T - IntronicSNV - 1/22
17-61561756-A-G ACE c.1775A>G p.Asp592Gly Missense 12/25 -
9-136507473-G-A DBH c.631G>A p.Ala211Thr Missense 3/12 -
17-61561756-A-T ACE c.1775A>T p.Asp592Val Missense 12/25 -
3-32445246-A-G CMTM7 c.159+11689A>G - IntronicSNV - 1/4
5-148206885-C-T ADRB2 c.491C>T p.Thr164Ile Missense 1/1 -
10-106656680-C-T SORCS3 c.696-18911C>T - IntronicSNV - 2/26
6-12295814-G-A EDN1 c.534-381G>A - IntronicSNV - 4/4
6-12294137-T-C EDN1 c.234-37T>C - IntronicSNV - 2/4
1-230844273-T-C AGT c.856+1468A>G - IntronicSNV - 2/4
17-61562373-A-G ACE c.1922-224A>G - IntronicSNV - 12/24
4-109781788-A-T COL25A1 c.1242+295T>A - IntronicSNV - 23/34
3-165547973-C-G BCHE c.849G>C p.Glu283Asp Missense 2/4 -
4-109781788-A-C COL25A1 c.1242+295T>G - IntronicSNV - 23/34
2-215664391-C-T BARD1 c.159-2550G>A - IntronicSNV - 1/10
6-12294862-T-A EDN1 c.533+225T>A - IntronicSNV - 4/4
16-84623516-A-C COTL1 c.318+195T>G - IntronicSNV - 3/3
4-77675505-C-A SHROOM3 c.3869C>A p.Pro1290Gln Missense 7/11 -
4-77675505-C-T SHROOM3 c.3869C>T p.Pro1290Leu Missense 7/11 -
10-106805350-T-C SORCS3 c.1028+2464T>C - IntronicSNV - 5/26
15-63817715-G-C USP3 c.92-7131G>C - IntronicSNV - 1/13
12-707575-G-A NINJ2 c.34-32231C>T - intron_variant - 1/3
12-707575-G-C NINJ2 c.34-32231C>G - intron_variant - 1/3
16-56939811-C-A SLC12A3 c.2951+1437C>A - IntronicSNV - 25/25
11-132179328-A-G NTM c.662-678A>G - IntronicSNV - 4/6
20-43263198-A-G ADA c.95+1670T>C - IntronicSNV - 2/11
15-48523267-A-G SLC12A1 c.975+567A>G - IntronicSNV - 7/26
16-56936319-C-T SLC12A3 c.2782C>T p.Arg928Cys Missense 24/26 -
10-106902433-C-A SORCS3 c.1302+3189C>A - IntronicSNV - 8/26
19-51323676-C-T KLK1 c.230G>A p.Arg77His Missense 3/5 -
16-23383536-G-A SCNN1B c.1152+332G>A - IntronicSNV - 7/12
X-19593737-A-C SH3KBP1 c.1299-6431T>G - IntronicSNV - 12/17
9-27524624-T-A IFNK c.290T>A p.Ile97Asn Missense 1/2 -
16-56921840-G-A SLC12A3 c.2182G>A p.Ala728Thr Missense 18/26 -
9-136504923-C-T DBH c.340-45C>T - IntronicSNV - 1/11
4-2888441-A-G ADD1 c.510+2048A>G - IntronicSNV - 4/14
X-19593737-A-G SH3KBP1 c.1299-6431T>C - IntronicSNV - 12/17
7-80297720-C-G CD36 c.749-1549C>G - IntronicSNV - 8/13
16-56939811-C-G SLC12A3 c.2951+1437C>G - IntronicSNV - 25/25
7-80297720-C-A CD36 c.749-1549C>A - IntronicSNV - 8/13
7-80297720-C-T CD36 c.749-1549C>T - IntronicSNV - 8/13
12-6954864-G-A GNB3 c.814G>A p.Gly272Ser Missense 9/10 -
10-106902433-C-T SORCS3 c.1302+3189C>T - IntronicSNV - 8/26
9-136504923-C-A DBH c.340-45C>A - IntronicSNV - 1/11
20-43270002-A-G ADA c.34-5073T>C - IntronicSNV - 1/11
15-63862329-G-T USP3 c.630-303G>T - IntronicSNV - 7/13
12-688340-A-C NINJ2 c.34-12996T>G - intron_variant - 1/3
16-23319016-T-C SCNN1B c.-9+5258T>C - intron_variant - 1/12
16-23364081-A-C SCNN1B c.312-41A>C - IntronicSNV - 2/12
4-183622901-T-C TENM3 c.2222-12339T>C - IntronicSNV - 12/27
20-43273692-G-T ADA c.33+6524C>A - IntronicSNV - 1/11
15-91457220-G-C MAN2A2 c.2860+235G>C - IntronicSNV - 19/22
10-106421057-G-T SORCS3 c.627+19345G>T - IntronicSNV - 1/26
10-106437233-C-T SORCS3 c.627+35521C>T - IntronicSNV - 1/26
1-11905981-A-T NPPA c.*85T>A - 3-UTRSNV 3/3 -
12-6466055-G-T SCNN1A c.876-1009C>A - IntronicSNV - 4/12
20-10633313-T-C JAG1 c.756-67A>G - IntronicSNV - 5/25
15-63803789-A-T USP3 c.91+6760A>T - IntronicSNV - 1/13
17-26121921-C-T NOS2 c.110+3805G>A - IntronicSNV - 2/26
1-10093457-C-T UBE4B c.1-272C>T - 5-UTRSNV 1/27 -
20-43270002-A-T ADA c.34-5073T>A - IntronicSNV - 1/11
10-106713633-A-G SORCS3 c.796-23460A>G - IntronicSNV - 3/26
20-43249591-C-T ADA c.975+68G>A - IntronicSNV - 10/11
17-26116848-C-T NOS2 c.111-134G>A - IntronicSNV - 2/26
9-140955547-G-A CACNA1B c.4668+1358G>A - IntronicSNV - 31/46
3-165491280-C-T BCHE c.1699G>A p.Ala567Thr Missense 4/4 -
15-48524522-G-C SLC12A1 c.976-402G>C - IntronicSNV - 7/26
15-48524522-G-A SLC12A1 c.976-402G>A - IntronicSNV - 7/26
16-23374008-C-T SCNN1B c.777-5169C>T - IntronicSNV - 4/12
16-23347304-A-G SCNN1B c.1-12617A>G - IntronicSNV - 1/12
12-6482786-G-C SCNN1A c.416+748C>G - IntronicSNV - 2/12
15-48554841-A-G SLC12A1 c.2154+3333A>G - IntronicSNV - 17/26
16-23374008-C-G SCNN1B c.777-5169C>G - IntronicSNV - 4/12
7-101754138-C-T CUX1 c.564-840C>T - IntronicSNV - 6/22
10-67790146-G-T CTNNA3 c.2159+38920C>A - IntronicSNV - 15/17
12-676390-A-T NINJ2 c.34-1046T>A - intron_variant - 1/3
12-21526883-T-C IAPP c.80+518T>C - IntronicSNV - 2/2
17-61563458-A-C ACE c.2059-460A>C - IntronicSNV - 13/24
17-61563458-A-G ACE c.2059-460A>G - IntronicSNV - 13/24
17-26111428-G-A NOS2 c.468-1296C>T - IntronicSNV - 5/26
12-676390-A-C NINJ2 c.34-1046T>G - intron_variant - 1/3
15-45425864-G-A DUOX1 c.59-198G>A - IntronicSNV - 3/34
15-63823301-A-G USP3 c.92-1545A>G - IntronicSNV - 1/13
15-63823301-A-T USP3 c.92-1545A>T - IntronicSNV - 1/13
12-24981611-A-C BCAT1 c.1119+1146T>G - IntronicSNV - 10/10
11-12469397-A-G PARVA c.137-25895A>G - intron_variant - 1/12
15-63842789-A-G USP3 c.153-3125A>G - IntronicSNV - 2/13
12-21532217-T-A IAPP c.*857T>A - 3-UTRSNV 3/3 -
1-162085685-G-T NOS1AP c.106-38510G>T - IntronicSNV - 1/9
5-148207053-C-G ADRB2 c.659C>G p.Ser220Cys Missense 1/1 -
9-136509370-G-A DBH c.952G>A p.Ala318Thr Missense 5/12 -
12-19512563-G-A PLEKHA5 c.2985+83G>A - IntronicSNV - 22/25
16-56917953-T-C SLC12A3 c.1670-8T>C - IntronicSNV - 13/25
17-61574662-C-A ACE c.3856C>A p.Arg1286Ser Missense 25/25 -
16-23349668-C-A SCNN1B c.1-10253C>A - IntronicSNV - 1/12
10-106487176-G-A SORCS3 c.627+85464G>A - IntronicSNV - 1/26
15-48524385-A-T SLC12A1 c.976-539A>T - IntronicSNV - 7/26
4-2873835-C-G ADD1 c.1-3808C>G - IntronicSNV - 1/14
12-19512563-G-T PLEKHA5 c.2985+83G>T - IntronicSNV - 22/25
1-160097666-G-C ATP1A2 c.1017+56G>C - IntronicSNV - 8/22
10-106403115-T-C SORCS3 c.627+1403T>C - IntronicSNV - 1/26
15-63818850-T-C USP3 c.92-5996T>C - IntronicSNV - 1/13
16-23349668-C-T SCNN1B c.1-10253C>T - IntronicSNV - 1/12
10-106487176-G-T SORCS3 c.627+85464G>T - IntronicSNV - 1/26
20-48164401-A-T PTGIS c.354T>A p.Ser118Arg Missense 3/10 -
10-106754277-A-G SORCS3 c.954+17026A>G - IntronicSNV - 4/26
16-56946072-C-T SLC12A3 c.2952-1104C>T - IntronicSNV - 25/25
4-2903285-A-G ADD1 c.1161+2123A>G - IntronicSNV - 9/14
15-63862329-G-C USP3 c.630-303G>C - IntronicSNV - 7/13
20-48131301-G-C PTGIS c.856-369C>G - IntronicSNV - 6/9
2-165427825-G-T GRB14 c.325-23499C>A - IntronicSNV - 2/13
20-48140744-G-A PTGIS c.706C>T p.Arg236Cys Missense 6/10 -
22-36708084-C-T MYH9 c.1728+10G>A - IntronicSNV - 14/40
X-65416087-G-A HEPH c.1663+1016G>A - IntronicSNV - 9/20
12-706125-C-T NINJ2 c.34-30781G>A - intron_variant - 1/3
10-106498526-C-T SORCS3 c.627+96814C>T - IntronicSNV - 1/26
X-106311987-T-C RBM41 c.1075+498A>G - IntronicSNV - 6/6
12-706125-C-G NINJ2 c.34-30781G>C - intron_variant - 1/3
12-706125-C-A NINJ2 c.34-30781G>T - intron_variant - 1/3
1-11557926-T-A DISP3 c.1-3124T>A - IntronicSNV - 1/20
1-11557926-T-G DISP3 c.1-3124T>G - IntronicSNV - 1/20
12-740961-G-A NINJ2 c.33+31533C>T - intron_variant - 1/3
1-186156514-C-T HMCN1 c.16415-501C>T - IntronicSNV - 105/106
10-106899707-A-G SORCS3 c.1302+463A>G - IntronicSNV - 8/26
10-106767157-T-C SORCS3 c.954+29906T>C - IntronicSNV - 4/26
1-35260586-C-T GJA4 c.772C>T p.Pro258Ser Missense 2/2 -
7-80300449-T-G CD36 c.975T>G p.Tyr325* Nonsense 10/14 -
12-81052353-T-A PTPRQ c.5736+513T>A - intron_variant - 41/46
16-56920910-G-A SLC12A3 c.2083G>A p.Gly695Arg Missense 17/26 -
15-63809990-A-C USP3 c.91+12961A>C - IntronicSNV - 1/13
5-33636594-G-A ADAMTS12 c.1888+1088C>T - IntronicSNV - 12/23
12-6466055-G-C SCNN1A c.876-1009C>G - IntronicSNV - 4/12
1-160102060-C-T ATP1A2 c.1827+1673C>T - IntronicSNV - 13/22
9-136505114-A-G DBH c.486A>G p.Glu162Glu Synonymous 2/12 -
16-23375921-A-G SCNN1B c.777-3256A>G - IntronicSNV - 4/12
22-36708084-C-G MYH9 c.1728+10G>C - IntronicSNV - 14/40
6-40382711-T-C LRFN2 c.1400+16742A>G - IntronicSNV - 2/2
10-112053599-C-T SMNDC1 c.*309G>A - 3-UTRSNV 6/6 -
17-42332803-C-T SLC4A1 c.1801-139G>A - IntronicSNV - 14/19
1-160102060-C-G ATP1A2 c.1827+1673C>G - IntronicSNV - 13/22
4-77660731-C-A SHROOM3 c.1405C>A p.Pro469Thr Missense 5/11 -
1-41948020-G-A EDN2 c.344+117C>T - IntronicSNV - 3/4
22-24827079-G-A ADORA2A c.1-2294G>A - IntronicSNV - 1/2
3-32467307-A-G CMTM7 c.160-16025A>G - IntronicSNV - 1/4
19-49482522-C-T GYS1 c.1170-1108G>A - IntronicSNV - 8/15
16-67984589-A-G SLC12A4 c.1422T>C p.Gly474Gly Synonymous 11/24 -
7-92886812-A-G VPS50 c.422+36A>G - IntronicSNV - 6/27
12-726015-G-C NINJ2 c.33+46479C>G - intron_variant - 1/3
12-726015-G-A NINJ2 c.33+46479C>T - intron_variant - 1/3
4-77660731-C-G SHROOM3 c.1405C>G p.Pro469Ala Missense 5/11 -
20-10622501-G-C JAG1 c.2612C>G p.Pro871Arg Missense 22/26 -
4-2906285-A-G ADD1 c.1162-206A>G - IntronicSNV - 9/14
17-26100321-A-C NOS2 c.1477-52T>G - IntronicSNV - 12/26
6-170706194-C-A FAM120B c.2692+1527C>A - IntronicSNV - 9/10
1-243806438-G-A AKT3 c.429+2757C>T - IntronicSNV - 4/13
8-91899505-G-A NECAB1 c.357+6147G>A - IntronicSNV - 5/12
17-26106675-A-G NOS2 c.1005-593T>C - IntronicSNV - 9/26
11-41146499-A-C LRRC4C c.-327+334482T>G - intron_variant - 1/4
10-106632037-T-C SORCS3 c.695+29420T>C - IntronicSNV - 2/26
10-106632037-T-A SORCS3 c.695+29420T>A - IntronicSNV - 2/26
8-32066467-T-G NRG1 c.38-386879T>G - IntronicSNV - 1/11
4-54414696-C-A LNX1 c.380+25094G>T - IntronicSNV - 2/10
1-95384905-T-C CNN3 c.57+7489A>G - IntronicSNV - 1/6
1-95384905-T-A CNN3 c.57+7489A>T - IntronicSNV - 1/6
15-48593854-T-C SLC12A1 c.3164+275T>C - IntronicSNV - 26/26
10-106447071-A-C SORCS3 c.627+45359A>C - IntronicSNV - 1/26
16-23366422-G-A SCNN1B c.586-198G>A - IntronicSNV - 3/12
1-41948020-G-T EDN2 c.344+117C>A - IntronicSNV - 3/4
1-204132816-G-T REN c.99-1525C>A - IntronicSNV - 1/9
20-43275001-T-C ADA c.33+5215A>G - IntronicSNV - 1/11
3-32470048-G-T CMTM7 c.160-13284G>T - IntronicSNV - 1/4
9-13183464-C-T MPDZ c.2602G>A p.Gly868Ser Missense 19/46 -
X-153207025-T-C RENBP c.851A>G p.Asp284Gly Missense 8/11 -
12-696383-A-T NINJ2 c.34-21039T>A - intron_variant - 1/3
1-35260769-C-G GJA4 c.955C>G p.Pro319Ala Missense 2/2 -
12-705680-A-G NINJ2 c.34-30336T>C - intron_variant - 1/3
10-106557944-G-C SORCS3 c.628-44606G>C - IntronicSNV - 1/26
12-6464581-C-T SCNN1A c.1000G>A p.Ala334Thr Missense 6/13 -
4-2906707-G-A ADD1 c.1378G>A p.Gly460Arg Missense 10/15 -
16-23375749-G-A SCNN1B c.777-3428G>A - IntronicSNV - 4/12
15-33874275-T-C RYR3 c.1573+431T>C - IntronicSNV - 14/103
15-33874275-T-G RYR3 c.1573+431T>G - IntronicSNV - 14/103
10-106711982-C-T SORCS3 c.796-25111C>T - IntronicSNV - 3/26
17-26104511-T-C NOS2 c.1281+1205A>G - IntronicSNV - 11/26
1-185903450-T-C HMCN1 c.1828+494T>C - IntronicSNV - 11/106
4-77368847-G-A SHROOM3 c.168+11474G>A - IntronicSNV - 1/10
19-51323232-T-C KLK1 c.556A>G p.Lys186Glu Missense 4/5 -
3-32479587-G-A CMTM7 c.160-3745G>A - IntronicSNV - 1/4
8-91899505-G-T NECAB1 c.357+6147G>T - IntronicSNV - 5/12
19-51323232-T-G KLK1 c.556A>C p.Lys186Gln Missense 4/5 -
16-56937998-T-C SLC12A3 c.2884-309T>C - IntronicSNV - 24/25
13-75884216-C-T TBC1D4 c.2455G>A p.Val819Ile Missense 14/21 -