Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1260189637
rs1260189637
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 CausalMutation CLINVAR Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 10766188

2000