Source: UNIPROT

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: rs121912476
rs121912476
KRT5
1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 1.000 1 2002 2002
dbSNP: rs57121345
rs57121345
KRT14
0.925 0.080 17 41586404 missense variant T/G snv
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 1.000 1 1993 1993
dbSNP: rs59115483
rs59115483
KRT5
0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 1.000 1 2002 2002