rs12720459

A SNP in the KCNQ1 gene on chromosome 11. Its most notable genotype is C;T: LQT1 form of Long QT syndrome

Gene
KCNQ1
Location
Chr 112,583,535 (GRCh38)
Highest magnitude
5.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratedNo summary available.Typical · 0.00% of people
  2. C;CGoodcommon in clinvarTypical · 0.099% of people
  3. C;TMost notableBadLQT1 form of Long QT syndromeVery important · 5.01% of people
  4. T;TBadLQT1 form of Long QT syndromeVery important · 5.00% of people

On SNPedia: (A;A), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageA;A 0% C;C 99% C;T 1% T;T 0%
  • European ancestry (Utah)A;A 0% C;C 99% C;T <1% T;T 0%
  • Han Chinese (Beijing)A;A 0% C;C 99% C;T <1% T;T 0%
  • Japanese (Tokyo)A;A 0% C;C 99% C;T <1% T;T 0%
  • Yoruba (Nigeria)A;A 0% C;C 99% C;T <1% T;T 0%
  • Chinese (Denver)A;A 0% C;C 99% C;T <1% T;T 0%
  • Luhya (Kenya)A;A 0% C;C 98% C;T 2% T;T 0%
  • Mexican ancestry (Los Angeles)A;A 0% C;C 97% C;T 3% T;T 0%

Conditions, medicines and genes

Other KCNQ1 SNPs

All KCNQ1 SNPs

Notes

From SNPedia

Notes

rs12720459, known also as Ala341Val and formerly as Ala212Val and Ala246Val, is a SNP in the potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 gene. This SNP, specifically rs12720459(T), represents one of the most common mutations within the KCNQ1 gene leading to LQT1, the most common form of Long QT syndrome. LQT1 is one of the less severe forms of Long QT syndrome. see OMIM 607542.0010

Source and license

Adapted from rs12720459 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.