rs13266634 a variant in the SLC30A8 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 rs13266634 is the catalogue number of one of them, in the SLC30A8 gene. Which letters you carry there — one copy from each parent — is your genotype.

SLC30A8 (solute carrier family 30 member 8): The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells.

Gene description from NCBI Gene

rs13266634 is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been as...

From SNPedia

Why might it matter?

ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Diabetes mellitus type 2, susceptibility to
• SLC30A8-related disorder

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

rs13266634

Gene

SLC30A8

Position (GRCh38)

chr8:117172543

Variant type

snv

Consequence

missense variant

ClinVar classification

Benign; risk factor

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

69.9%

1kG AFR

7.4%

1kG ALL

74.5%

1kG AMR

73.3%

1kG EAS

45.7%

1kG EUR

28.3%

1kG SAS

25.5%

Sources

• dbSNP: rs13266634 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: SLC30A8
• Ensembl: SLC30A8
• GWAS Catalog — association studies

Related

Other variants in SLC30A8

• rs757010863
• rs200185429
• rs587777582

• The SLC30A8 gene
• SNP explorer
• Gene directory
• Health conditions