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: 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: rs121434325
rs121434325
ERCC8
1 1.000 0.160 5 60904794 missense variant G/A snv 8.0E-06 7.1E-06 0.800 1.000 3 2004 2010
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: rs281875222
rs281875222
ERCC8
1 1.000 0.160 5 60904795 missense variant C/T snv 7.1E-06 0.700 1.000 3 2004 2010
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: rs281875224
rs281875224
ERCC8
1 1.000 0.160 5 60902454 missense variant A/G snv 0.700 1.000 3 2004 2010
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: rs121434324
rs121434324
ERCC8 ; NDUFAF2
1 1.000 0.160 5 60944972 stop gained C/A snv 7.6E-05 4.9E-05 0.710 1.000 2 2004 2010