Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894119
rs104894119
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		0.800 GeneticVariation UNIPROT A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 27855412 2017
dbSNP: rs104894119
rs104894119
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		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
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: rs104894119
rs104894119
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: rs104894119
rs104894119
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		0.800 GeneticVariation UNIPROT Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 27610946 2017
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: rs104894124
rs104894124
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: rs104894124
rs104894124
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: rs104894125
rs104894125
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: rs104894125
rs104894125
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: rs104894126
rs104894126
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: rs104894126
rs104894126
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: rs121918654
rs121918654
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: rs121918654
rs121918654
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: rs886039769
rs886039769
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		0.800 GeneticVariation UNIPROT Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 27610946 2017
dbSNP: rs886039769
rs886039769
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		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
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: rs886039769
rs886039769
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		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
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: rs104894119
rs104894119
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C4479552
Disease:
46,XX SEX REVERSAL 4 		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: rs104894119
rs104894119
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 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 27378692 2016
dbSNP: rs104894124
rs104894124
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: rs104894125
rs104894125
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