rs819147

neutralMag 1.5

This is a intron variant variant in the AHCY gene.

Key Literature Trait Associations

S-Adenosylhomocysteine Metabolism

The AHCY-01 variant (rs819147) is an intronic polymorphism in S-adenosylhomocysteine hydrolase, which converts S-adenosylhomocysteine to adenosine and homocysteine. Note: the C allele is the GRCh38 reference but the minor allele (~29%). No peer-reviewed studies have established independent clinical significance for this variant.

Gellekink H et al. “Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.” European Journal of Human Genetics : Ejhg (2004)

Allele C

OR 1.27

p —

Candidate gene study

European

Lerner-Ellis JP et al. “Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.” Human Mutation 24(6):509-516 (2004)

Allele C

OR —

p 2.0e-1

Candidate gene study

Monteiro JP et al. “Methylation potential associated with diet, genotype, protein, and metabolite levels in the Delta Obesity Vitamin Study.” Genes & Nutrition (2014)

Allele C

OR —

p —

N 107

Candidate gene study

African American

Fumić K et al. “Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.” European Journal of Human Genetics : Ejhg (2007)

Allele C

OR —

p —

Candidate gene study

multi-ancestry

▶

ClinVar annotation

Benign★☆☆☆

2 submitters1 publication

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…