rs275350

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GWAS Catalog Trait Associations (8)

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

white matter hyperintensity measurement

Persyn E et al. “Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants.” Nature Communications 11(1):2175 (2020)
Allele C
OR 7.81
p 9.0e-17
N 45,204
Large GWAS
multi-ancestry
Zhukovsky P et al. “Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression.” Nature Communications 15(1):5207 (2024)
Allele C
OR 7.46
p 9.0e-14
N 30,708
Large GWAS
European
Armstrong NJ et al. “Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.” Stroke 51(7):2111-2121 (2020)
Allele C
OR 0.04
p 5.0e-11
N 18,226
Large GWAS
multi-ancestry
Traylor M et al. “Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n = 11,226).” Neurology 92(8):e749-e757 (2019)
Allele C
OR 0.07
p 2.0e-9
N 11,226
Large GWAS
European

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 8.25
p 2.0e-16
N 33,748
Large GWAS
European
Zhukovsky P et al. “Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression.” Nature Communications 15(1):5207 (2024)
Allele C
OR —
p 6.0e-9
N 34,556
Large GWAS
European

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.07
p 5.0e-13
N 21,282
Major Consortium StudyLarge GWAS
European

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 6.22
p 5.0e-10
N 33,748
Large GWAS
European

neuroimaging measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.06
p 2.0e-9
N 20,859
Major Consortium StudyLarge GWAS
European

brain connectivity attribute

Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)
Allele C
OR 5.78
p 7.0e-9
N 30,810
Large GWAS
European

cerebral small vessel disease

Mishra A et al. “Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.” Brain : a Journal of Neurology 145(6):1992-2007 (2022)
Allele C
OR 1.18
p 1.0e-8
N 19,721
Large 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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