Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518122
rs1057518122
RPGRIP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs114342808
rs114342808
CRB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs116733939
rs116733939
GPHN ; RDH12
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1191496583
rs1191496583
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908449
rs121908449
RGS9
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121918165
rs121918165
LCA5
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918844
rs121918844
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs137853124
rs137853124
RPGRIP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1420672586
rs1420672586
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1420672586
rs1420672586
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142326926
rs142326926
AIPL1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1429137932
rs1429137932
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs150412614
rs150412614
CRB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553128102
rs1553128102
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553152989
rs1553152989
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553261468
rs1553261468
CRB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553722736
rs1553722736
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554125752
rs1554125752
TULP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		CG 0.700 GeneticVariation CLINVAR

dbSNP: rs1554347012
rs1554347012
AHI1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555220638
rs1555220638
CEP290
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555222073
rs1555222073
CEP290
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555303320
rs1555303320
RPGRIP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555635925
rs1555635925
GUCY2D
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		CCGTGCTCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1556313552
rs1556313552
RP2
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556313557
rs1556313557
RP2
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR