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: rs770804393
rs770804393
DLK1
3 0.882 0.240 14 100734514 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2020 2020
dbSNP: rs893924483
rs893924483
BDNF ; BDNF-AS
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs536368448
rs536368448
NTF3
2 0.925 0.200 12 5494689 missense variant G/A snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1482664387
rs1482664387
ERCC8
1 1.000 0.160 5 60887439 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs897535441
rs897535441
ERCC8
5 0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs372237310
rs372237310
ERCC8
2 0.925 0.160 5 60887522 splice acceptor variant T/C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121434323
rs121434323
ERCC8
2 0.925 0.160 5 60890964 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1554072713
rs1554072713
ERCC8
1 1.000 0.160 5 60891002 frameshift variant C/- del 0.700 0
dbSNP: rs1305258765
rs1305258765
ERCC8
1 1.000 0.160 5 60898275 splice donor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs281875225
rs281875225
ERCC8
1 1.000 0.160 5 60898322 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.700 1.000 3 2004 2010
dbSNP: rs770499406
rs770499406
ERCC8
4 0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554073117
rs1554073117
ERCC8
1 1.000 0.160 5 60898402 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs1554073175
rs1554073175
ERCC8
1 1.000 0.160 5 60899666 frameshift variant C/- del 0.700 0
dbSNP: rs1554073177
rs1554073177
ERCC8
1 1.000 0.160 5 60899693 stop gained -/TCTCA delins 0.700 0
dbSNP: rs201464610
rs201464610
ERCC8
1 1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 2 2006 2016
dbSNP: rs121434326
rs121434326
ERCC8
1 1.000 0.160 5 60902446 missense variant C/G snv 6.4E-05 0.710 1.000 3 2004 2010
dbSNP: rs281875224
rs281875224
ERCC8
1 1.000 0.160 5 60902454 missense variant A/G snv 0.700 1.000 3 2004 2010
dbSNP: rs1468231556
rs1468231556
ERCC8
1 1.000 0.160 5 60902458 frameshift variant -/A delins 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs281875223
rs281875223
ERCC8
1 1.000 0.160 5 60902477 missense variant C/A;G snv 0.700 1.000 3 2004 2010
dbSNP: rs1554073316
rs1554073316
ERCC8
1 1.000 0.160 5 60902509 splice acceptor variant C/T snv 0.700 1.000 1 2010 2010