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: rs201464610
rs201464610
ERCC8
1 1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 2 2006 2016