rs4273712

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (8)

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

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 21.47
p 3.0e-102
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele G
OR —
p 1.0e-17
N 35,657
Large GWAS
European
Grasby KL et al. “The genetic architecture of the human cerebral cortex.” Science (new York, N.y.) 367(6484) (2020)
Allele G
OR 18.05
p 6.0e-23
N 33,992
Large GWAS
European

type 2 diabetes mellitus

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 A
OR 0.05
p 1.0e-31
N 432,648
Major Consortium StudyLarge GWAS
European
Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele A
OR 0.06
p 1.0e-28
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 3.0e-18
N 667,504
Large GWAS
multi-ancestry
Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele A
OR 1.05
p 3.0e-12
N 433,540
Large GWAS
East Asian

diabetes mellitus

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 A
OR 0.05
p 2.0e-30
N 431,305
Major Consortium StudyLarge GWAS
European

diabetes mellitus, Drugs used in diabetes use 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 A
OR 0.05
p 1.0e-17
N 315,668
Major Consortium StudyLarge GWAS
European

intracranial volume measurement

Ikram MA et al. “Common variants at 6q22 and 17q21 are associated with intracranial volume.” Nature Genetics 44(5):539-44 (2012)
Allele G
OR 12.50
p 2.0e-13
N 8,175
Large GWAS
multi-ancestry

systolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele G
OR 0.01
p 9.0e-12
N 1,212,859
Large GWAS
European

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 A
OR 0.06
p 2.0e-8
N 19,273
Large GWAS
European, East Asian, South Asian, African unspecified, NR

HbA1c 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 A
OR 0.06
p 6.0e-64
N 338,640
Major Consortium StudyLarge GWAS
European

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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