rs10224002

This is a intron variant variant in the PRKAG2 gene.

▶

GWAS Catalog Trait Associations (9)

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

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele G
OR 0.01
p 4.0e-142
N 1,004,040
Large GWAS
European
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.01
p 7.0e-118
N 567,460
Large GWAS
European
van Zuydam NR et al. “A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.” Diabetes 67(7):1414-1427 (2018)
Allele G
OR 2.01
p 3.0e-8
N 13,158
Large GWAS
multi-ancestry

serum creatinine amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.05
p 2.0e-40
N 110,051
Large GWAS
European

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.34
p 1.0e-15
N 321,262
Large GWAS
multi-ancestry

hematocrit

Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele G
OR 0.20
p 6.0e-15
N 24,167
Major Consortium StudyLarge GWAS
European

vps10 domain-containing receptor sorcs2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 8.0e-12
N 47,745
Large GWAS
European

diastolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.17
p 2.0e-11
N 321,262
Large GWAS
multi-ancestry

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.17
p 4.0e-9
N 321,262
Large GWAS
multi-ancestry

hemoglobin measurement

Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele G
OR —
β 0.062
p 5.0e-52
N 46,904
Large GWAS
European
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele G
OR 0.07
p 3.0e-15
N 24,167
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory

About PRKAG2

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

View all PRKAG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…