Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906750
rs387906750
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
0.800 GeneticVariation UNIPROT Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 21802064 2011
dbSNP: rs387906751
rs387906751
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
0.800 GeneticVariation UNIPROT Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 21802064 2011
dbSNP: rs387906750
rs387906750
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
C 0.800 CausalMutation CLINVAR
dbSNP: rs387906751
rs387906751
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
G 0.800 CausalMutation CLINVAR
dbSNP: rs797044460
rs797044460
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
C 0.800 CausalMutation CLINVAR
dbSNP: rs797044460
rs797044460
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
0.800 GeneticVariation UNIPROT
dbSNP: rs12764498
rs12764498
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13222
rs13222
Entrez Id: 1646;101928051
Gene Symbol: AKR1C2;LOC101928051
AKR1C2;LOC101928051
CUI: C1839840
Disease:
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
C 0.700 CausalMutation CLINVAR
dbSNP: rs1937863
rs1937863
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0011570
Disease:
Mental Depression
0.010 GeneticVariation BEFREE However, exploratory analyses suggested that the women who were homozygous for the minor allele of the AKR1C2 polymorphism rs1937863 had nominally lower allopregnanolone levels and lower depression scores in gestational week 17, but also the highest increase in depression scores between week 17 and 32. 28666923 2017
dbSNP: rs1937863
rs1937863
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0344315
Disease:
Depressed mood
0.010 GeneticVariation BEFREE However, exploratory analyses suggested that the women who were homozygous for the minor allele of the AKR1C2 polymorphism rs1937863 had nominally lower allopregnanolone levels and lower depression scores in gestational week 17, but also the highest increase in depression scores between week 17 and 32. 28666923 2017
dbSNP: rs1937863
rs1937863
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0011581
Disease:
Depressive disorder
0.010 GeneticVariation BEFREE However, exploratory analyses suggested that the women who were homozygous for the minor allele of the AKR1C2 polymorphism rs1937863 had nominally lower allopregnanolone levels and lower depression scores in gestational week 17, but also the highest increase in depression scores between week 17 and 32. 28666923 2017
dbSNP: rs781971826
rs781971826
Entrez Id: 1646;101928051
Gene Symbol: AKR1C2;LOC101928051
AKR1C2;LOC101928051
CUI: C1691215
Disease:
Penile hypospadias
0.010 GeneticVariation BEFREE Mutation analysis of the AKR1C3 gene showed a new mutation, c.643G>A (p.(Ala215Thr)), in a boy with penile hypospadias. 24986825 2015
dbSNP: rs2854482
rs2854482
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE For rs2854482 in AKR1C2, carrying 1 or 2 A alleles was associated with a 2.0-fold increased breast cancer risk in EPT users (95% confidence interval: 1.0, 4.0) but not in never users (P(heterogeneity) = 0.03). 19846565 2009
dbSNP: rs2854482
rs2854482
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE For rs2854482 in AKR1C2, carrying 1 or 2 A alleles was associated with a 2.0-fold increased breast cancer risk in EPT users (95% confidence interval: 1.0, 4.0) but not in never users (P(heterogeneity) = 0.03). 19846565 2009