rs12814794

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GWAS Catalog Trait Associations (25)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.01
p 1.0e-52
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)
Allele A
OR 0.86
p 2.0e-40
N 864,690
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

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 0.04
p 2.0e-27
N 404,121
Major Consortium StudyLarge GWAS
European
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.01
p 2.0e-11
N 403,943
Large GWAS
European

cholesterol to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-22
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-21
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-20
N 450,015
Large GWAS
multi-ancestry

cholesterol in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-19
N 450,015
Large GWAS
multi-ancestry

gluteofemoral adipose tissue measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)
Allele G
OR 0.07
p 2.0e-18
N 37,641
Large GWAS
European, East Asian, South Asian, African unspecified, NR

concentration of large HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-17
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-16
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants in the ITPR2 gene are associated with Kashin‐Beck Disease in Tibetan
AssociationN=636Xue He et al.(2019)· Molecular Genetics &amp; Genomic Medicine

This case-control study examined eight SNPs in the ITPR2 gene in a Tibetan population (316 KBD patients and 320 controls). The variant rs11048526 showed significant association with Kashin-Beck Disease (KBD), with the A allele conferring increased risk (OR = 1.49, 95% CI = 1.07-2.08, p = 0.019) in the allele model, and even stronger effects in co-dominant, dominant, and log-additive models after age and gender adjustment.

Traits studied:Kashin-Beck DiseaseOsteoarthritis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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