PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: CONE-ROD DYSTROPHY 12 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs543698823
rs543698823
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		TA 0.700 GeneticVariation CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009
dbSNP: rs543698823
rs543698823
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		TA 0.700 GeneticVariation CLINVAR A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 10205271 1999