Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort. 27070133

2016
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency. 26446026

2016
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. 20190539

2010
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency. 20493473

2010
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency. 19492581

2009
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 16181229

2005
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 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: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. 15770495

2005
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. 15064320

2004
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. 15528927

2004
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 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: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. 12843198

2003
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 10898110

2000
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Uniparental disomy in steroid 5alpha-reductase 2 deficiency. 10999800

2000
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. 10718838

2000
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. 9745434

1998
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 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: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). 9208814

1997
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT 5 alpha-reductase-2 gene mutations in the Dominican Republic. 8626825

1996
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. 8768837

1996
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. 7554313

1995
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. 8110760

1994
dbSNP: rs121434244
rs121434244
SRD5A2
0.800 GeneticVariation UNIPROT Molecular genetics of steroid 5 alpha-reductase 2 deficiency. 1522235

1992
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Molecular genetics of steroid 5 alpha-reductase 2 deficiency. 1522235

1992
dbSNP: rs121434244
rs121434244
SRD5A2
A 0.800 CausalMutation CLINVAR Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. 1406794

1992