Gene: NR5A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894124
rs104894124
NR5A1
0.010 GeneticVariation BEFREE We confirmed functional impairment resulting from a p.Val15Met variant, detected for the first time in a patient with premature ovarian insufficiency. 31787151

2020
dbSNP: rs141502483
rs141502483
NR5A1
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