Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141502483
rs141502483
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C0085215
Disease:
Ovarian Failure, Premature
0.010 GeneticVariation BEFREE The analysis of pedigrees showing the inheritance of the 769G-->A mutation and POF strengthens the concept of the disease heterogeneity, since the POF phenotype was not always associated with the mutation. 12093833 2002