rs281380
This variant is located in the MAMSTR gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
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 T
OR 16.26
p 2.0e-59
N 980
Small GWAS
multi-ancestry
glomerular filtration rate
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele C
OR 9.82
p 9.0e-23
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele C
OR 0.00
p 2.0e-17
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele C
OR 0.00
p 7.0e-15
N 567,460
Large GWAS
European
Hellwege JN et al. “Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.” Nature Communications 10(1):3842 (2019)
Allele C
OR 0.00
p 1.0e-9
N 280,722
Major Consortium StudyLarge GWAS
multi-ancestry
blood urea nitrogen amount
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele T
OR 0.00
p 5.0e-19
N 852,680
Large GWAS
European
serum creatinine amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 7.0e-13
N 394,642
Large GWAS
European
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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