Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1450238352
rs1450238352
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 CausalMutation CLINVAR A unique chromosomal in-frame deletion identified among seven XP-C patients. 27387384

2016