Disease: 46,XY Sex Reversal 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 28459839 2017
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115 2017
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		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: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency. 24405868 2014
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 17694559 2008
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. 17200175 2007
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601 2006
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 11932325 2002
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		0.800 GeneticVariation UNIPROT A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 10369247 1999
dbSNP: rs104894120
rs104894120
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C3489793
Disease:
46,XY Sex Reversal 3 		T 0.800 CausalMutation CLINVAR