BIVM-ERCC5, BIVM-ERCC5 readthrough, 100533467

N. diseases: 15; N. variants: 38
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: rs121434575
rs121434575 		0.925 0.240 13 102868152 missense variant T/C snv
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 0.800 1.000 7 1994 2013