Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.030 1.000 3 2010 2014
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2019 2019
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 2019
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs751141
rs751141
EPHX2
16 0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 0.010 1.000 1 2013 2013
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
dbSNP: rs2108622
rs2108622
CYP4F2
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.020 1.000 2 2018 2018
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.900 0.971 35 2007 2019
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.030 1.000 3 2010 2015
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.010 1.000 1 2019 2019