Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912849
rs121912849
COL7A1
1.000 0.080 3 48575236 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 14 1993 2010