Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894927
rs104894927
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
T 0.700 CausalMutation CLINVAR Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 10053026

1999