Disease: Xeroderma Pigmentosum, Complementation Group D ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746795177
rs746795177
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D 		C 0.700 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016