rs12476527

This variant is located in the KCNK3 gene.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele T
OR 0.25
p 3.0e-21
N 459,777
Large GWAS
multi-ancestry

heart rate

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 3.0e-18
N 609,455
Major Consortium StudyLarge GWAS
multi-ancestry

Calcium channel blocker use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.08
p 6.0e-15
N 178,726
Large GWAS
East Asian

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 1.0e-11
N 408,112
Large GWAS
European

QT interval

Hoffmann TJ et al. “A large genome-wide association study of QT interval length utilizing electronic health records.” Genetics 222(4) (2022)
Allele G
OR 0.66
p 3.0e-10
N 76,995
Large GWAS
multi-ancestry

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.01
p 5.0e-9
N 408,112
Large GWAS
European

systolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele G
OR 0.51
p 6.0e-50
N 459,777
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 3.0e-11
N 119,334
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Udosen B et al. “Meta-Analysis and Multivariate GWAS Analyses in 80,950 Individuals of African Ancestry Identify Novel Variants Associated with Blood Pressure Traits.” International Journal of Molecular Sciences 24(3) (2023)
Allele G
OR 0.04
p 6.0e-11
N 80,950
Meta-analysisLarge GWAS
African unspecified
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About KCNK3

This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]

View all KCNK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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