KRT83, keratin 83, 3889

N. diseases: 29; 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: rs57802288
rs57802288 		1.000 0.080 12 52315936 stop gained C/A;T snv 8.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2005 2015
dbSNP: rs1438087533
rs1438087533 		1.000 0.080 12 52315903 missense variant C/T snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0