rs281379

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

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GWAS Catalog Trait Associations (9)

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

milk amount

Ambalavanan A et al. “Human milk oligosaccharides are associated with maternal genetics and respiratory health of human milk-fed children.” Nature Communications 15(1):7735 (2024)
Allele A
OR 22.86
p 1.0e-115
N 980
Small GWAS
multi-ancestry

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.16
p 3.0e-16
N 5,361
Large 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 8.0e-13
N 128,922
Large GWAS
European

C-C motif chemokine 25 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.09
p 4.0e-12
N 10,708
Large GWAS
European

Crohn's disease

Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele A
OR 1.07
p 7.0e-12
N 21,389
Meta-analysisLarge GWAS
European

taste liking measurement

May-Wilson S et al. “Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits.” Nature Communications 13(1):2743 (2022)
Allele A
OR 0.02
p 4.0e-11
N 156,958
Large GWAS
European

asthma exacerbation measurement

Ahluwalia TS et al. “FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses.” Nature Communications 11(1):6398 (2020)
Allele G
OR 1.18
p 3.0e-9
N 68,281
Large GWAS
European

body height

Cousminer DL et al. “Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.” Human Molecular Genetics 22(13):2735-47 (2013)
Allele G
OR 0.07
p 5.0e-8
N 14,040
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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