Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder)
0.800 GeneticVariation UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder)
A 0.800 CausalMutation CLINVAR