Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1228981894
rs1228981894
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 CausalMutation CLINVAR Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations. 23173980

2013