KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Weber-Cockayne Syndrome ×
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: rs57378129
rs57378129 		1.000 0.080 12 52519798 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011