SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434245
rs121434245
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434246
rs121434246
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434247
rs121434247
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434249
rs121434249
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 GeneticVariation CLINVAR
dbSNP: rs121434250
rs121434250
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
G 0.800 CausalMutation CLINVAR
dbSNP: rs121434250
rs121434250
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434252
rs121434252
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
C 0.800 CausalMutation CLINVAR
dbSNP: rs121434253
rs121434253
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
A 0.800 CausalMutation CLINVAR
dbSNP: rs756853742
rs756853742
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs767564684
rs767564684
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
0.800 GeneticVariation UNIPROT
dbSNP: rs772283403
rs772283403
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
A 0.800 CausalMutation CLINVAR
dbSNP: rs9332967
rs9332967
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.800 CausalMutation CLINVAR
dbSNP: rs763296857
rs763296857
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
C 0.710 CausalMutation CLINVAR
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C4551492
Disease:
Micropenis
T 0.710 CausalMutation CLINVAR
dbSNP: rs104893667
rs104893667
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C4551492
Disease:
Micropenis
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057517829
rs1057517829
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
0.700 GeneticVariation UNIPROT
dbSNP: rs1060499834
rs1060499834
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
A 0.700 CausalMutation CLINVAR
dbSNP: rs1200261940
rs1200261940
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.700 CausalMutation CLINVAR
dbSNP: rs121434250
rs121434250
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C4020961
Disease:
Displacement of the external urethral meatus
G 0.700 CausalMutation CLINVAR
dbSNP: rs1331249320
rs1331249320
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
0.700 GeneticVariation UNIPROT
dbSNP: rs1340425455
rs1340425455
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
C 0.700 CausalMutation CLINVAR
dbSNP: rs1351269392
rs1351269392
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
0.700 GeneticVariation UNIPROT
dbSNP: rs1553323033
rs1553323033
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553323036
rs1553323036
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553323488
rs1553323488
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias
A 0.700 GeneticVariation CLINVAR