KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912476
rs121912476 		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: rs59115483
rs59115483 		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
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.700 0