rs2638282

This is a downstream gene variant variant in the MAMSTR gene.

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GWAS Catalog Trait Associations (5)

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

level of alpha-amylase 2B in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 4.0e-21
N 47,745
Large GWAS
European

level of alpha-amylase 2A in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 9.0e-21
N 47,745
Large GWAS
European

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)
Allele A
OR 0.04
p 2.0e-14
N 1,508,386
Large GWAS
multi-ancestry

dental caries

Nogawa S et al. “Genome-wide association meta-analysis identifies two novel loci associated with dental caries.” Bmc Oral Health 24(1):1003 (2024)
Allele A
OR 7.32
p 2.0e-13
N 533,348
Meta-analysisLarge GWAS
multi-ancestry

alcohol consumption quality

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 2.0e-52
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

About MAMSTR

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all MAMSTR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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