Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. 25605705

2015

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China. 25899528

2015

dbSNP: rs9332964
rs9332964
T 0.810 GeneticVariation CLINVAR Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China. 25899528

2015

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. 22453073

2012

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development. 20736251

2011

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Diagnosis of 5alpha-reductase 2 deficiency: a local experience. 19342739

2009

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 16181229

2005

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. 15770495

2005

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. 16098368

2005

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family. 14594182

2004

dbSNP: rs9332964
rs9332964
T 0.810 GeneticVariation CLINVAR Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. 15064320

2004

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. 15528927

2004

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. 15064320

2004

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. 12843198

2003

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. 12843198

2003

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Uniparental disomy in steroid 5alpha-reductase 2 deficiency. 10999800

2000

dbSNP: rs9332964
rs9332964
T 0.810 GeneticVariation CLINVAR Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 10898110

2000

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 10898110

2000

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. 10718838

2000

dbSNP: rs9332964
rs9332964
T 0.810 CausalMutation CLINVAR Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 10898110

2000

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. 9745434

1998

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. 9843052

1998

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). 9208814

1997

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT 5 alpha-reductase-2 gene mutations in the Dominican Republic. 8626825

1996

dbSNP: rs9332964
rs9332964
0.810 GeneticVariation UNIPROT Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. 8768837

1996