rs221789

This is a regulatory region variant variant in the GNB2 gene.

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GWAS Catalog Trait Associations (2)

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

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele T
OR 7.21
p 6.0e-13
N 33,748
Large GWAS
European

heart rate response to recovery post exercise

Diamant N et al. “Deep learning on resting electrocardiogram to identify impaired heart rate recovery.” Cardiovascular Digital Health Journal 3(4):161-170 (2022)
Allele C
OR 0.25
p 5.0e-9
N 43,722
Major Consortium StudyLarge GWAS
European

About GNB2

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

View all GNB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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