Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
0.820 GeneticVariation UNIPROT

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254

2008

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 16225923

2005

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616

2003

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000

dbSNP: rs104894492
rs104894492
0.800 GeneticVariation UNIPROT The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 11071390

2000

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254

2008

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 16225923

2005

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616

2003

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 11071390

2000

dbSNP: rs146403122
rs146403122
0.720 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000

dbSNP: rs377257254
rs377257254
0.710 GeneticVariation UNIPROT

dbSNP: rs104894493
rs104894493
0.700 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs1278137915
rs1278137915
0.700 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs1489149705
rs1489149705
0.700 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs752883545
rs752883545
0.700 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013

dbSNP: rs104894493
rs104894493
0.700 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009

dbSNP: rs1278137915
rs1278137915
0.700 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009

dbSNP: rs1489149705
rs1489149705
0.700 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009