rs33988101

This is a synonymous variant in the MAMSTR gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 5.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 1.0e-11
N 239,268
Large GWAS
European

galectin-3 measurement

Folkersen L et al. “Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.” Plos Genetics 13(4):e1006706 (2017)
Allele T
OR 0.14
p 6.0e-10
N 3,394
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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