Disease: 46, XY Disorders of Sex Development ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918654
rs121918654
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C2751824
Disease:
46, XY Disorders of Sex Development 		0.010 GeneticVariation BEFREE The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. 29151085 2018
dbSNP: rs104894119
rs104894119
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C2751824
Disease:
46, XY Disorders of Sex Development 		0.010 GeneticVariation BEFREE The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. 27855412 2017
dbSNP: rs1213451480
rs1213451480
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
CUI: C2751824
Disease:
46, XY Disorders of Sex Development 		0.010 GeneticVariation BEFREE Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia. 24905461 2014