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: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 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: rs1305258765
rs1305258765
ERCC8
1 1.000 0.160 5 60898275 splice donor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1476095782
rs1476095782
ERCC8
1 1.000 0.160 5 60928863 splice donor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1482664387
rs1482664387
ERCC8
1 1.000 0.160 5 60887439 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1554072713
rs1554072713
ERCC8
1 1.000 0.160 5 60891002 frameshift variant C/- del 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: rs1554073420
rs1554073420
ERCC8
1 1.000 0.160 5 60903718 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554074597
rs1554074597
ERCC8 ; ERCC8-AS1
1 1.000 0.160 5 60918390 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554076239
rs1554076239
ERCC8 ; NDUFAF2
1 1.000 0.160 5 60944930 splice donor variant A/C 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: rs748379243
rs748379243
ERCC8
6 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
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: rs786205176
rs786205176
ERCC8
1 1.000 0.160 5 60928896 frameshift variant G/- del 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: rs1131691783
rs1131691783
ERCC8 ; ERCC8-AS1
1 1.000 0.160 5 60918367 frameshift variant TCT/CA delins 0.700 1.000 1 2016 2016
dbSNP: rs1404477615
rs1404477615
ERCC8 ; ERCC8-AS1
1 1.000 0.160 5 60918350 frameshift variant CA/- delins 0.700 1.000 1 2006 2006
dbSNP: rs143367518
rs143367518
ERCC8 ; ERCC8-AS1
1 1.000 0.160 5 60918364 stop gained G/C snv 1.6E-05 3.5E-05 0.700 1.000 1 2010 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: rs1554073316
rs1554073316
ERCC8
1 1.000 0.160 5 60902509 splice acceptor variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs774542633
rs774542633
ERCC8 ; ERCC8-AS1
1 1.000 0.160 5 60918266 frameshift variant ATGTA/- delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2011 2011
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