Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574936510
rs574936510
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C0339527
Disease:
Leber Congenital Amaurosis
C 0.700 CausalMutation CLINVAR