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: rs1055680335
rs1055680335
COL7A1
0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1055680335
rs1055680335
COL7A1
0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 0