rs2373115

This is a intron variant variant in the GAB2 gene.

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GWAS Catalog Trait Associations (3)

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 A
OR 0.01
p 4.0e-68
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

Alzheimer disease

Reiman EM et al. “GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.” Neuron 54(5):713-20 (2007)
Allele G
OR 4.06
p 1.0e-10
N 736
Small GWAS

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.13
p 2.0e-8
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Replication study of genome‐wide associated SNPs with late‐onset Alzheimer's disease
AssociationN=1,969Burns LC et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This is a replication study of 12 SNPs previously associated with late-onset Alzheimer's disease (LOAD) in a large case-control sample of 993 Caucasian American cases and 976 controls. The primary analysis found no statistically significant associations between the 12 SNPs and AD risk. However, the study identified two novel associations: rs16934131 in KCNMA1 was significantly associated with age-at-onset (p=0.0066) and disease duration (p=0.0002), while rs3746319 in ZNF224 was associated with age-at-onset (p=0.002).

Traits studied:Age-at-onset of Alzheimer's diseaseDisease duration of Alzheimer's diseaseLate-onset Alzheimer's disease
PubMedDOIMetascience Observatory
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GAB2 as an Alzheimer Disease Susceptibility Gene
AssociationN=4,007Brit-Maren M. Schjeide et al.(2009)· Archives of Neurology

This follow-up study of genomewide association findings tested 4 putative Alzheimer's disease susceptibility loci from prior GWA studies in 4,007 DNA samples from 1,299 families with AD. Only rs7101429 in GAB2 showed significant evidence of association (P = .002), with a protective effect (OR = 0.76, 95% CI 0.62-0.94). The other 3 loci (GOLM1, chromosome 15q, and chromosome 9p) did not show consistent evidence of association across the datasets.

Traits studied:Alzheimer's disease
PubMedDOIMetascience Observatory

About GAB2

This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

View all GAB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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