Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894672
rs104894672
CRX
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		T 0.820 CausalMutation CLINVAR

dbSNP: rs104894671
rs104894671
CRX
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		C 0.810 CausalMutation CLINVAR

dbSNP: rs104894673
rs104894673
CRX
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		T 0.800 CausalMutation CLINVAR

dbSNP: rs61748436
rs61748436
CRX
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		A 0.710 CausalMutation CLINVAR

dbSNP: rs1555801963
rs1555801963
CRX
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555801989
rs1555801989
CRX
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568626209
rs1568626209
CRX
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568626289
rs1568626289
CRX
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs281865515
rs281865515
CRX
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		A 0.700 CausalMutation CLINVAR

dbSNP: rs281865516
rs281865516
CRX
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs527236062
rs527236062
CRX
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR

dbSNP: rs527236063
rs527236063
CRX
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs61748449
rs61748449
CRX
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs771450991
rs771450991
CRX
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224863
rs863224863
CRX
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs864309706
rs864309706
CRX
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		G 0.700 CausalMutation CLINVAR

dbSNP: rs864309707
rs864309707
CRX
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		A 0.700 CausalMutation CLINVAR

dbSNP: rs864309708
rs864309708
CRX
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		C 0.700 CausalMutation CLINVAR

dbSNP: rs869312175
rs869312175
CRX
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs878853383
rs878853383
CRX
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR