Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.710 GeneticVariation CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668

2008