Variant: rs104894118 

    present in Gene: NR5A1
    present in Chromosome: 9
    Position on Chromosome: 124500196
    Alleles of this Variant: C/A;T

rs104894118 in NR5A1 gene and PREMATURE OVARIAN FAILURE 7 (disorder) PMID 11038323 2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

PMID 26523528 2016 Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.