rs120074192
A SNP in the KCNQ1 gene on chromosome 11. Its most notable genotype is A;G: Romano-Ward Long QT Syndrome
- Gene
- KCNQ1
- Location
- Chr 112,527,959 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other KCNQ1 SNPs
- rs17215500T;TLQT1 form of Long QT syndrome; Jervell and Lange-Nielsen syndromeVery important
- rs179489C;GRomano-Ward Long QT SyndromeVery important
- rs1800171A;GRomano-Ward Long QT SyndromeVery important
- rs12720459C;TLQT1 form of Long QT syndromeVery important
- rs104894252A;GRomano-Ward Long QT SyndromeVery important
- rs104894255A;GRomano-Ward Long QT SyndromeVery important
- rs120074177C;GRomano-Ward Long QT SyndromeVery important
- rs120074178A;GRomano-Ward Long QT SyndromeVery important
Notes
From SNPedia
Notes
aka c.37A>G (p.Ser13Gly or S13G; also S140G in older literature) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Human KCNQ1 S140G mutation is associated with atrioventricular blocks. Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels. The S140G KCNQ1 atrial fibrillation mutation affects 'I(KS)' profile during both atrial and ventricular action potentials.
Source and license
Adapted from rs120074192 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.