Gene: NR5A1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894119
rs104894119
NR5A1
0.800 GeneticVariation UNIPROT NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115

2017
dbSNP: rs104894119
rs104894119
NR5A1
0.800 GeneticVariation UNIPROT Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 27610946

2017
dbSNP: rs104894119
rs104894119
NR5A1
0.800 GeneticVariation UNIPROT A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 27855412

2017
dbSNP: rs886039769
rs886039769
NR5A1
0.800 GeneticVariation UNIPROT A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 27855412

2017
dbSNP: rs886039769
rs886039769
NR5A1
0.800 GeneticVariation UNIPROT NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115

2017
dbSNP: rs886039769
rs886039769
NR5A1
0.800 GeneticVariation UNIPROT Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 27610946

2017
dbSNP: rs104894119
rs104894119
NR5A1
0.800 GeneticVariation UNIPROT A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 27378692

2016
dbSNP: rs886039769
rs886039769
NR5A1
0.800 GeneticVariation UNIPROT A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 27378692

2016