CCNH, cyclin H, 902

N. diseases: 83; N. variants: 37
Disease: Xeroderma pigmentosum, group G ×
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: rs2230641
rs2230641 		0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007