SASH1, SAM and SH3 domain containing 1, 23328

N. diseases: 67; N. variants: 26
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: rs587781245
rs587781245 		0.882 0.120 6 148533885 missense variant G/A snv 6.8E-05 7.0E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0