Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs543698823
rs543698823
PROM1
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
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
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TA 0.700 CausalMutation CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270

2009
dbSNP: rs543698823
rs543698823
PROM1
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
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: rs543698823
rs543698823
PROM1
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs543698823
rs543698823
PROM1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		TA 0.700 CausalMutation CLINVAR