Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750987123
rs750987123
PCARE
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886

2010