FANCG, FA complementation group G, 2189

N. diseases: 132; N. variants: 19
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: rs2237857
rs2237857 		0.925 0.200 9 35076758 missense variant G/A snv 1.5E-02 3.0E-02
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 0.010 1.000 1 2006 2006