Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation 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: rs587777737
rs587777737 		1.000 0.120 8 101619632 missense variant T/C snv
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs587777738
rs587777738 		1.000 0.120 8 101632325 missense variant T/A;C snv 4.0E-06
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2014 2014