Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. 27169744

2016
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR Exome sequencing for the diagnosis of 46,XY disorders of sex development. 25383892

2015
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 25122490

2014
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 22907560

2012
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 23154282

2012
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 CausalMutation CLINVAR Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 22028768

2011
dbSNP: rs1057517779
rs1057517779
NR5A1
A 0.700 GeneticVariation CLINVAR