rs120074194
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 112,572,871 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;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
Vasoactive intestinal polypeptide (VIP): distribution in normal human brain and in Huntington's disease. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Source and license
Adapted from rs120074194 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.