XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×
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: rs25487
rs25487 		0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2015
dbSNP: rs1799782
rs1799782 		0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005