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: rs121912856
rs121912856
COL7A1
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.720 1.000 5 1996 2012