rs17522122
This is a downstream gene variant variant in the AKAP6 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
educational attainment
Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)
Allele T
OR 0.01
p 2.0e-29
N 3,037,499
Large GWAS
European
body mass index
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.02
p 8.0e-24
N 806,834
Meta-analysisLarge GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 3.0e-19
N 342,566
Large GWAS
European
Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele T
OR —
β 0.018
p 8.0e-12
N 334,487
Large GWAS
multi-ancestry
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.016
p 9.0e-9
N 309,889
Large GWAS
European
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.02
p 3.0e-8
N 123,097
Meta-analysisLarge GWAS
multi-ancestry
Bandesh K et al. “Identification and characterization of the long non-coding RNA NFIA-AS2 as a novel locus for body mass index in American Indians.” International Journal of Obesity (2005) 47(6):434-442 (2023)
Allele T
OR —
β 0.016
p 8.0e-9
N 5,870
Large GWAS
Native American
fat pad mass
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 9.0e-17
N 337,196
Large GWAS
European
type 2 diabetes mellitus
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele G
OR 0.03
p 1.0e-13
N 1,114,458
Meta-analysisLarge GWAS
European
Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)
Allele G
OR 1.04
p 3.0e-9
N 898,130
Large GWAS
European
reaction time measurement
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 2.0e-13
N 404,449
Large GWAS
European
C-reactive protein measurement
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 3.0e-9
N 575,531
Large GWAS
European
prostate carcinoma, type 2 diabetes mellitus
Ray D et al. “A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer.” Plos Genetics 16(12):e1009218 (2020)
Allele T
OR —
p 4.0e-9
N 801,624
Large GWAS
European
systolic blood pressure, body mass index
Huang LO et al. “Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.” Nature Metabolism 3(2):228-243 (2021)
Allele T
OR —
p 5.0e-9
N 489,364
Large GWAS
multi-ancestry
periodontitis
Yu YH et al. “Candidate loci shared among periodontal disease, diabetes and bone density.” Frontiers in Endocrinology 13:1016373 (2022)
Allele T
OR 0.02
p 1.0e-8
N 506,596
Large GWAS
physical activity measurement, body mass index
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.02
p 2.0e-8
N 161,368
Meta-analysisLarge GWAS
multi-ancestry
About AKAP6
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
View all AKAP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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