Gene: CYP11B2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT A compound heterozygote case of type II aldosterone synthase deficiency. 12788848

2003
dbSNP: rs72554626
rs72554626
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT A compound heterozygote case of type II aldosterone synthase deficiency. 12788848

2003
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 9814506

1998
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 9625333

1998
dbSNP: rs72554626
rs72554626
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 9814506

1998
dbSNP: rs72554626
rs72554626
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 9625333

1998
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. 1346492

1992
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 1594605

1992
dbSNP: rs72554626
rs72554626
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 1594605

1992
dbSNP: rs72554626
rs72554626
CYP11B2 ; GML
0.800 GeneticVariation UNIPROT Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. 1346492

1992
dbSNP: rs104894072
rs104894072
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT A compound heterozygote case of type II aldosterone synthase deficiency. 12788848

2003
dbSNP: rs28931609
rs28931609
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT A compound heterozygote case of type II aldosterone synthase deficiency. 12788848

2003
dbSNP: rs104894072
rs104894072
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 9814506

1998
dbSNP: rs104894072
rs104894072
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 9625333

1998
dbSNP: rs28931609
rs28931609
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 9625333

1998
dbSNP: rs28931609
rs28931609
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 9814506

1998
dbSNP: rs104894072
rs104894072
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 1594605

1992
dbSNP: rs104894072
rs104894072
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. 1346492

1992
dbSNP: rs28931609
rs28931609
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients. 1346492

1992
dbSNP: rs28931609
rs28931609
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT All individuals affected with CMO-II deficiency were homozygous for both mutations, whereas eight asymptomatic subjects were homozygous for R181W alone and three were homozygous for V386A alone. 1594605

1992
dbSNP: rs61757294
rs61757294
CYP11B2 ; GML
0.700 GeneticVariation UNIPROT