Gene Knowledge Graph
UTC
Sensitive

Long QT syndrome

KCNQ1 · rs139042529

Where this position leads

Condition: QT Interval and Drug-Induced Long QT

rs139042529 Condition: QT Interval and Drug-Induced Long QT QT Interval and Drug-Induced Long QT Condition rs139042529 rs139042529 KCNQ1

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Benign/Likely benign for Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Atrial fibrillation, familial, 3, Short QT syndrome type 2 and 3 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 12 submitters), last evaluated 2026-06-01. ClinVar record 178385 NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)

Classification Pathogenic/Likely pathogenic for Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome, Cardiac arrhythmia, KCNQ1-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2025-07-01. ClinVar record 265209 NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)

Classification Pathogenic for Long QT syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-05-09. ClinVar record 53056 NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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

C/C No copy of the version ClinVar lists as disease-causing for Long QT syndrome. This is the usual result. (ClinVar VCV000053056, criteria provided, multiple submitters, no conflicts)
C/G One copy of the version ClinVar lists as disease-causing for Long QT syndrome. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000053056, criteria provided, multiple submitters, no conflicts)
G/G Two copies of the version ClinVar lists as disease-causing for Long QT syndrome. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000053056, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000053056, criteria provided, multiple submitters, no conflicts

Questions about rs139042529

What is rs139042529?

rs139042529 is a single position in the genome, in or near the KCNQ1 gene. Published research associates it with long qt syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs139042529 linked to?

On MyGeneLog this position is linked to QT Interval and Drug-Induced Long QT. The research behind each link, and its sources, are set out on that condition page.

Does having rs139042529 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 rs139042529 come from?

ClinVar VCV000053056, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Long QT syndrome (rs139042529). MyGeneLog™. https://www.mygenelog.com/variants/rs139042529

← See all variants