Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052954321
rs1052954321
ALPK1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659

2019
dbSNP: rs147346345
rs147346345
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs76157638
rs76157638
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs202193201
rs202193201
FAM161A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs200691042
rs200691042
FAM161A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1762111
rs1762111
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1563329888
rs1563329888
RP1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs137853137
rs137853137
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121908180
rs121908180
BBS2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
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: 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: rs869312186
rs869312186
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs869312185
rs869312185
RPGR
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs869312184
rs869312184
ABCA4
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: rs869312183
rs869312183
TOPORS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs782469310
rs782469310
RBP3
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: rs782215106
rs782215106
RBP3
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61752067
rs61752067
RS1 ; CDKL5
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: rs61751404
rs61751404
ABCA4
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: rs61751402
rs61751402
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61750135
rs61750135
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61748552
rs61748552
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs398123575
rs398123575
EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs1800728
rs1800728
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016