Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150726175
rs150726175
NMNAT1
0.720 GeneticVariation BEFREE NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119

2018
dbSNP: rs150726175
rs150726175
NMNAT1
A 0.720 CausalMutation CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082

2015
dbSNP: rs150726175
rs150726175
NMNAT1
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
0.720 GeneticVariation BEFREE 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
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
A 0.720 CausalMutation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231

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

2012
dbSNP: rs150726175
rs150726175
NMNAT1
A 0.720 CausalMutation CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227

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

2012
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61750168
rs61750168
GUCY2D
0.710 GeneticVariation BEFREE Three of the 5 patients harbor the Arg768Trp mutation reported in GUCY2D-associated Leber congenital amaurosis. 29559409

2018
dbSNP: rs62636275
rs62636275
CRB1
0.710 GeneticVariation BEFREE A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 16543197

2006
dbSNP: rs62636275
rs62636275
CRB1
A 0.710 CausalMutation CLINVAR

dbSNP: rs121908449
rs121908449
RGS9
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs137853124
rs137853124
RPGRIP1
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs386834152
rs386834152
CEP290
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs397515360
rs397515360
CNGB3
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62637014
rs62637014
AIPL1
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62638214
rs62638214
GRM6
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62645752
rs62645752
CRB1
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs758593134
rs758593134
CEP290 ; TMTC3
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs781781440
rs781781440
CDHR1
CA 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs869312175
rs869312175
CRX
G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs866395428
rs866395428
LCA5
A 0.700 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015