Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517779
rs1057517779
NR5A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation BEFREE We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys). 22028768

2011
dbSNP: rs1064794281
rs1064794281
NR5A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation BEFREE We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys). 22028768

2011
dbSNP: rs1110061
rs1110061
NR5A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation BEFREE 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: rs1110062
rs1110062
NR5A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation BEFREE 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: rs745564225
rs745564225
NR5A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation BEFREE Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K. 25502990

2015