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: rs121913028
rs121913028
ERCC1
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.800 1.000 2 2007 2013
dbSNP: rs150584960
rs150584960
ERCC1
1 1.000 0.280 19 45421315 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs121913027
rs121913027
ERCC1
1 1.000 0.280 19 45419151 stop gained G/A snv 0.700 0