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: rs121912836
rs121912836
COL7A1
3 0.882 0.080 3 48575392 missense variant C/A;T snv 0.030 1.000 3 1997 2001
dbSNP: rs121912834
rs121912834
COL7A1
6 0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762162799
rs762162799
COL7A1
8 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.010 1.000 1 2004 2004