KRT85, keratin 85, 3891

N. diseases: 14; N. variants: 2
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type ×
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: rs1565766888
rs1565766888 		1.000 0.080 12 52360928 frameshift variant AG/- del
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs61630004
rs61630004 		1.000 0.080 12 52367173 missense variant C/T snv 3.8E-02 3.7E-02
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0