Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917833
rs121917833
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121917780
rs121917780
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs121917780
rs121917780
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121917781
rs121917781
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28934591
rs28934591
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28934592
rs28934592
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28934594
rs28934594
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907117
rs387907117
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121917782
rs121917782
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C4017360
Disease:
APPARENT MINERALOCORTICOID EXCESS, MILD 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1309642469
rs1309642469
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.700 GeneticVariation UNIPROT
dbSNP: rs376023420
rs376023420
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509434
rs397509434
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		C 0.700 CausalMutation CLINVAR
dbSNP: rs768507002
rs768507002
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.700 GeneticVariation UNIPROT
dbSNP: rs794726669
rs794726669
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C4017360
Disease:
APPARENT MINERALOCORTICOID EXCESS, MILD 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794726670
rs794726670
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794726684
rs794726684
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121917833
rs121917833
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.810 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs121917780
rs121917780
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs121917781
rs121917781
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs28934591
rs28934591
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs28934592
rs28934592
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs28934594
rs28934594
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs387907117
rs387907117
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.800 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs1453036708
rs1453036708
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.700 GeneticVariation UNIPROT Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 7593417 1995
dbSNP: rs121917833
rs121917833
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C3887949
Disease:
Apparent mineralocorticoid excess 		0.810 GeneticVariation UNIPROT A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. 7608290 1995