Disease: Xeroderma Pigmentosum, Complementation Group D ×
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: rs376556895
rs376556895 		0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 15 1994 2016