rs199472815
A SNP in the KCNQ1 gene on chromosome 11. Its most notable genotype is A;G: LQT1 form of Long QT syndrome
- Gene
- KCNQ1
- Location
- Chr 112,778,024 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadLQT1 form of Long QT syndrome
- G;GGoodcommon in clinvar
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
aka c.1400G>A (p.Arg467Gln) but in some literature c.1781G>A Considered pathogenic for Long QT syndrome, but in at least one publication, also noted as of low penetrance
Source and license
Adapted from rs199472815 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.