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: rs147105770
rs147105770
ERCC4
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.710 1.000 7 2010 2018
dbSNP: rs121913028
rs121913028
ERCC1
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs1555468482
rs1555468482
ERCC4
3 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013
dbSNP: rs886039224
rs886039224
ERCC1
1 1.000 0.160 19 45414887 stop gained T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057518910
rs1057518910
ERCC6
1 1.000 0.160 10 49500634 missense variant A/G snv 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 0.010 1.000 1 2010 2010
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
2 0.925 0.240 13 102868152 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs57077886
rs57077886
LMNA
9 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs752712823
rs752712823
ERCC6
1 1.000 0.160 10 49500628 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs774175886
rs774175886
ERCC6
1 1.000 0.160 10 49500616 missense variant A/C snv 4.0E-05 2.8E-05 0.010 1.000 1 2014 2014