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: 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
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
dbSNP: rs1210104601
rs1210104601
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs775957498
rs775957498
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886037880
rs886037880
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886037881
rs886037881
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		T 0.700 CausalMutation CLINVAR