Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082

2015
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. 24830548

2014
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231

2012
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229

2012
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227

2012
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230

2012
dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.720 GeneticVariation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231

2012
dbSNP: rs61750168
rs61750168
GUCY2D
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62636275
rs62636275
CRB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.710 CausalMutation CLINVAR

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