Disease: Enhanced S-Cone Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377257254
rs377257254
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.710 GeneticVariation BEFREE The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results. 17601449 2007
dbSNP: rs377257254
rs377257254
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.710 GeneticVariation UNIPROT