KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
Disease: Epidermolysis Bullosa Simplex ×
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: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1994 1994