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Atrial fibrillation

TTN-AS1 · rs3731748

Where this position leads

What the study found

Who was studied 77,690 European ancestry cases, 1,167,040 European ancestry controls, 67,864 Japanese ancestry cases, 1,026,594 Japanese ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0853 higher (95% confidence interval 0.07-0.1); p = 1 × 10⁻²⁹.

How common The A allele had a frequency of about 22% in the people studied.

Where it sits Chromosome 2, band 2q31.2 — a synonymous change in TTN-AS1.

What ClinVar records

Classification Benign for Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 15 submitters), last evaluated 2026-02-04. ClinVar record 47530 NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Atrial fibrillation. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Atrial fibrillation. That is a smaller link than two copies.

G/G No copy of the version the research linked to Atrial fibrillation. This is the starting point the study compared everyone against.

Source

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction

Miyazawa K, Ito K, Ito M, Zou Z, Kubota M, Nomura S, Matsunaga H, Koyama S, Ieki H, Akiyama M, Koike Y, Kurosawa R

and 14 more — show all

Yoshida H, Ozaki K, Onouchi Y, Takahashi A, Matsuda K, Murakami Y, Aburatani H, Kubo M, Momozawa Y, Terao C, Oki S, Akazawa H, Kamatani Y, Komuro I

BioBank Japan Project

Nature genetics · 2023 · PMID 36653681 · open access

Questions about rs3731748

What is rs3731748?

rs3731748 is a single position in the genome, in or near the TTN-AS1 gene. Published research associates it with atrial fibrillation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3731748 linked to?

On MyGeneLog this position is linked to Atrial Fibrillation. The research behind each link, and its sources, are set out on that condition page.

Does having rs3731748 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs3731748 come from?

GWAS Catalog, Nature genetics 2023, PMID:36653681. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Atrial fibrillation (rs3731748). MyGeneLog™. https://www.mygenelog.com/variants/rs3731748

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