Variant: rs104894072 

    present in Gene: CYP11B2;GML
    present in Chromosome: 8
    Position on Chromosome: 142915047
    Alleles of this Variant: T/G

rs104894072 in CYP11B2;GML gene and Corticosterone Methyl Oxidase Type II Deficiency PMID 1594605 1992 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

PMID 9625333 1998 Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

PMID 9814506 1998 Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

PMID 1346492 1992 Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

PMID 12788848 2003 A compound heterozygote case of type II aldosterone synthase deficiency.