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: rs121912841
rs121912841
COL7A1 ; MIR711
0.925 0.120 3 48578497 missense variant C/G;T snv
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		0.800 1.000 1 2002 2002
dbSNP: rs121912841
rs121912841
COL7A1 ; MIR711
0.925 0.120 3 48578497 missense variant C/G;T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0