rs11021499

This variant is located in the MAML2 gene.

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GWAS Catalog Trait Associations (1)

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 8.0e-15
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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Research that mentions this SNP (1)

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Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study
AssociationN=11,687Digna R. Velez Edwards et al.(2013)· Human Genetics

A genome-wide gene-environment interaction study examined 8,203 African-American and 3,484 Hispanic postmenopausal women from the Women's Health Initiative SHARe GWAS for SNP interactions with lifestyle factors (smoking, diet, physical activity, alcohol) on BMI and waist-to-hip ratio. The strongest BMI gene-environment interaction across cohorts was rs10133840 with smoking (beta=-0.01, P=3.81×10^-7), and the strongest WHR interaction in African-Americans was rs9557704 (ITGBL1) with dietary energy intake (beta=-0.04, P=2.17×10^-7).

Traits studied:Body Mass Index (BMI)ObesityWaist-to-Hip Ratio (WHR)
PubMedDOIMetascience Observatory

About MAML2

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

View all MAML2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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