Gene: ERCC6 ×
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: rs121917901
rs121917901
ERCC6
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 0.700 0
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
dbSNP: rs373227647
rs373227647
ERCC6
7 0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
8 0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs12571445
rs12571445
ERCC6
3 0.882 0.080 10 49514137 intron variant A/G snv 7.0E-03 0.010 1.000 1 2009 2009
dbSNP: rs2228526
rs2228526
ERCC6
13 0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2009 2009
dbSNP: rs3793784
rs3793784
ERCC6
8 0.827 0.120 10 49539493 5 prime UTR variant G/C snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs4253160
rs4253160
ERCC6
3 0.882 0.080 10 49485920 intron variant T/A snv 0.31 0.010 1.000 1 2009 2009