rs37369 a variant in the AGXT2 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs37369 is the catalogue number of one of them, in the AGXT2 gene. Which letters you carry there — one copy from each parent — is your genotype.

AGXT2 (alanine--glyoxylate aminotransferase 2): The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney.

Gene description from NCBI Gene

rs37369''' is a SNP located in the coding region of the alanine-glyoxylate aminotransferase-2 (AG...

From SNPedia

Why might it matter?

ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.

Conditions it has been reported with

• Beta-aminoisobutyric acid, urinary excretion of

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs37369

Gene

AGXT2

Position (GRCh38)

chr5:35037009

Variant type

snv

Consequence

missense variant

ClinVar classification

Affects

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

13%

1kG AFR

36.9%

1kG ALL

60.6%

1kG AMR

32.4%

1kG EAS

42.6%

1kG EUR

91.4%

1kG SAS

74.8%

Sources

• dbSNP: rs37369 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: AGXT2
• Ensembl: AGXT2
• GWAS Catalog — association studies

Related

• The AGXT2 gene
• SNP explorer
• Gene directory
• Health conditions