Variant: rs200749741

present in Gene: NR5A1 present in Chromosome: 9 Position on Chromosome: 124500574 Alleles of this Variant: G/A

rs200749741 in NR5A1 gene and PREMATURE OVARIAN FAILURE 7 (disorder) PMID 19246354 2009 Mutations in NR5A1 associated with ovarian insufficiency.

rs200749741 in NR5A1 gene and SPERMATOGENIC FAILURE 8 PMID 20887963 2010 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.