rs1801272 a variant in the CYP2A6 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 rs1801272 is the catalogue number of one of them, in the CYP2A6 gene. Which letters you carry there — one copy from each parent — is your genotype.

CYP2A6 (cytochrome P450 family 2 subfamily A member 6): This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital.

Gene description from NCBI Gene

minor form is a slow metaboliser according to pharmgkb [OMIM:?] [GWAS:Smoking behavior]

From SNPedia

Why might it matter?

ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. 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

• Warfarin response
• Nicotine
• Poor metabolism 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

rs1801272

Gene

CYP2A6

Position (GRCh38)

chr19:40848627

Variant type

snv

Consequence

missense variant

ClinVar classification

drug response

Genome-wide association studies (4)

How common the less frequent letter is

gnomAD ALL

97.5%

1kG AFR

0.1%

1kG ALL

99.1%

1kG AMR

0.7%

1kG EAS

100%

1kG EUR

3.4%

1kG SAS

0.6%

Sources

• dbSNP: rs1801272 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: CYP2A6
• Ensembl: CYP2A6
• GWAS Catalog — association studies

Related

• The CYP2A6 gene
• SNP explorer
• Gene directory
• Health conditions