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: rs1368134215
rs1368134215
COL7A1
0.925 0.080 3 48575673 stop gained G/A snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.010 1.000 1 2000 2000
dbSNP: rs1368134215
rs1368134215
COL7A1
0.925 0.080 3 48575673 stop gained G/A snv
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2000 2000