rs819171

This is a intron variant variant in the AHCY gene.

Key Literature Trait Associations

S-Adenosylhomocysteine Metabolism

The AHCY-19 variant (rs819171) is an intronic polymorphism in S-adenosylhomocysteine hydrolase. Note: the C allele is the GRCh38 reference but the minor allele (~25%). No peer-reviewed studies have established independent clinical significance for this variant.

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

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…