rs2763979 a variant in the HSPA1B 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 rs2763979 is the catalogue number of one of them, in the HSPA1B gene. Which letters you carry there — one copy from each parent — is your genotype.

HSPA1B (heat shock protein family A (Hsp70) member 1B): This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles.

Gene description from NCBI Gene

Heat shock protein 70 gene polymorphisms in sudden sensorineural hearing loss

From SNPedia

Why might it matter?

ClinVar records this variant as association, meaning seen more often in people with a condition, which is not the same as causing it. 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

• Chronic obstructive pulmonary disease

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

rs2763979

Gene

HSPA1B

Position (GRCh38)

chr6:31826814

Variant type

snv

Consequence

non coding transcript exon variant

ClinVar classification

association

Genome-wide association studies (5)

How common the less frequent letter is

1kG AFR

70.7%

1kG ALL

55.2%

1kG AMR

57.9%

1kG EAS

73.7%

1kG EUR

36.5%

1kG SAS

39.6%

Sources

• dbSNP: rs2763979 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: HSPA1B
• Ensembl: HSPA1B
• GWAS Catalog — association studies

Related

Other variants in HSPA1B

• rs6457452

• The HSPA1B gene
• SNP explorer
• Gene directory
• Health conditions