Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs758705873
rs758705873
USH2A ; LOC105372918
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853414
rs878853414
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853413
rs878853413
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853410
rs878853410
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853408
rs878853408
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

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: 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: rs80338902
rs80338902
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 10775529

2000
dbSNP: rs746837034
rs746837034
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs727503715
rs727503715
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132

2007
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: rs878853385
rs878853385
SPATA7
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		GC 0.700 GeneticVariation CLINVAR

dbSNP: rs749009747
rs749009747
SLC19A1 ; COL18A1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555874538
rs1555874538
SLC19A1 ; COL18A1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555870809
rs1555870809
SLC19A1 ; COL18A1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs138504221
rs138504221
SGSH
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR

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: rs878853392
rs878853392
RPGRIP1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853391
rs878853391
RPGRIP1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853390
rs878853390
RPGRIP1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853389
rs878853389
RPGRIP1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TA 0.700 GeneticVariation CLINVAR