DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Keratoderma, Palmoplantar ×
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: rs761331634
rs761331634 		1.000 0.080 6 7579740 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019