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: rs121917902
rs121917902
ERCC6 ; PGBD3
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011