KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis bullosa simplex with mottled pigmentation ×
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: rs57499817
rs57499817 		0.807 0.160 12 52520223 missense variant G/A snv
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.850 1.000 8 1996 2011
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0