rs12740374 a variant in the CELSR2 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 rs12740374 is the catalogue number of one of them, in the CELSR2 gene. Which letters you carry there — one copy from each parent — is your genotype.

CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2): The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain.

Gene description from NCBI Gene

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to stat...

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

• Low density lipoprotein cholesterol level quantitative trait locus 6

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

rs12740374

Gene

CELSR2

Position (GRCh38)

chr1:109274967

Variant type

snv

Consequence

3 prime UTR variant

ClinVar classification

association

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

81.3%

1kG AFR

75.3%

1kG ALL

80.5%

1kG AMR

79.5%

1kG EAS

4.3%

1kG EUR

78.7%

1kG SAS

25.9%

Sources

• dbSNP: rs12740374 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: CELSR2
• Ensembl: CELSR2
• GWAS Catalog — association studies

Related

Other variants in CELSR2

• rs561330579
• rs148393417
• rs146152324
• rs144552794
• rs1223692503
• rs201372895
• rs74116308
• rs377543974
• rs113925756
• rs369285532

• The CELSR2 gene
• SNP explorer
• Gene directory
• Health conditions