Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554269053
rs1554269053
PRPH2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853387
rs878853387
PRPF8
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853335
rs878853335
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853334
rs878853334
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853331
rs878853331
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312187
rs869312187
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs868538598
rs868538598
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555792415
rs1555792415
PRPF31
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

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
dbSNP: rs878853400
rs878853400
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs780697796
rs780697796
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976

2015
dbSNP: rs762078182
rs762078182
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs746174328
rs746174328
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

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: rs373331232
rs373331232
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014
dbSNP: rs372513650
rs372513650
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 26103963

2015
dbSNP: rs137853907
rs137853907
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011
dbSNP: rs137853005
rs137853005
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs1196489060
rs1196489060
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs76216585
rs76216585
POC1B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461

2014
dbSNP: rs76216585
rs76216585
POC1B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745

2014
dbSNP: rs76216585
rs76216585
POC1B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096

2014
dbSNP: rs869312188
rs869312188
PHF3 ; EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		ACC 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs1435861529
rs1435861529
PHF3 ; EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR