Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553604559
rs1553604559
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion. 26278556

2015
dbSNP: rs1553604559
rs1553604559
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 20054342

2010