KRT86, keratin 86, 3892

N. diseases: 23; N. variants: 11
Disease: Monilethrix ×
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: rs56821304
rs56821304 		1.000 0.080 12 52287145 missense variant C/G;T snv 4.9E-04
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0