rs819134

neutralMag 1.5

This is a intron variant variant in the AHCY gene.

Key Literature Trait Associations

S-Adenosylhomocysteine Metabolism

The AHCY-02 variant (rs819134) is an intronic polymorphism in S-adenosylhomocysteine hydrolase. Note: the G allele is the GRCh38 reference but the minor allele (~26%). No peer-reviewed association studies have established independent clinical significance for this variant.

Feng Q et al. “Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization.” Journal of Neurochemistry (2009)

Allele G

OR —

p —

N 240

Candidate gene study

multi-ancestry

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 G

OR —

p 2.0e-1

Candidate gene study

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 G

OR —

p —

N 20

Candidate gene study

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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