rs547113723
This variant is located in the MCUB gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of BPI fold-containing family B member 2 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 T
OR 0.39
p 2.0e-38
N 47,745
Large GWAS
European
triglyceride measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 3.0e-20
N 455,659
Large GWAS
multi-ancestry
alpha-L-iduronidase measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.21
p 2.0e-12
N 47,745
Large GWAS
European
cholesteryl ester measurement, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.16
p 3.0e-11
N 115,082
Large GWAS
European
degree of unsaturation measurement
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 T
OR —
p 4.0e-11
N 239,268
Large GWAS
European
polyunsaturated fatty acids to total fatty acids percentage
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 T
OR —
p 9.0e-11
N 239,268
Large GWAS
European
total cholesterol measurement, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.15
p 1.0e-10
N 115,082
Large GWAS
European
high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.14
p 7.0e-9
N 115,082
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 T
OR —
p 1.0e-8
N 239,268
Large GWAS
European
polyunsaturated fatty acids to monounsaturated fatty acids ratio
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 T
OR —
p 8.0e-9
N 110,346
Large GWAS
European
About MCUB
Enables calcium channel inhibitor activity. Involved in negative regulation of calcium import into the mitochondrion. Located in cytosol and mitochondrial inner membrane. Part of uniplex complex. [provided by Alliance of Genome Resources, Jul 2025]
View all MCUB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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