Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554626
rs72554626
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 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: 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