Gene: NR2E3 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
NR2E3
0.820 GeneticVariation UNIPROT

dbSNP: rs104894492
rs104894492
NR2E3
T 0.800 CausalMutation CLINVAR

dbSNP: rs377257254
rs377257254
NR2E3
0.710 GeneticVariation UNIPROT

dbSNP: rs1303613101
rs1303613101
NR2E3
0.700 GeneticVariation UNIPROT

dbSNP: rs1567159701
rs1567159701
NR2E3
A 0.700 CausalMutation CLINVAR

dbSNP: rs766769900
rs766769900
NR2E3
0.700 GeneticVariation UNIPROT

dbSNP: rs774102273
rs774102273
NR2E3
0.700 GeneticVariation UNIPROT

dbSNP: rs990307718
rs990307718
NR2E3
0.700 GeneticVariation UNIPROT

dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 GeneticVariation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs104894492
rs104894492
NR2E3
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: rs146403122
rs146403122
NR2E3
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: rs104894493
rs104894493
NR2E3
0.700 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs1278137915
rs1278137915
NR2E3
0.700 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs1489149705
rs1489149705
NR2E3
0.700 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs752883545
rs752883545
NR2E3
0.700 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR 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: rs104894492
rs104894492
NR2E3
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
NR2E3
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: rs104894493
rs104894493
NR2E3
0.700 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: rs1278137915
rs1278137915
NR2E3
0.700 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: rs1489149705
rs1489149705
NR2E3
0.700 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: rs752883545
rs752883545
NR2E3
0.700 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: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q. 11773633

2002