Variant: rs72554627

present in Gene: GML;CYP11B2 present in Chromosome: 8 Position on Chromosome: 142912546 Alleles of this Variant: A/G

rs72554627 in GML;CYP11B2 gene and Corticosterone Methyl Oxidase Type I Deficiency PMID 9177280 1997 CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).

PMID 11238478 2001 Type 1 aldosterone synthase deficiency presenting in a middle-aged man.