Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754532049
rs754532049
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR Founder mutations in xeroderma pigmentosum. 20463673

2010
dbSNP: rs754532049
rs754532049
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 20054342

2010
dbSNP: rs754532049
rs754532049
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. 19478817

2009
dbSNP: rs754532049
rs754532049
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR Skin cancers, blindness, and anterior tongue mass in African brothers. 19119101

2008