rs182611493
This is a intron variant variant in the MAU2 gene.
▶GWAS Catalog Trait Associations (21)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (21)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
acid sphingomyelinase-like phosphodiesterase 3a measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.24
p 2.0e-29
N 47,745
Large GWAS
European
omega-3 polyunsaturated fatty acid measurement
Borges MC et al. “Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants.” Bmc Medicine 20(1):210 (2022)
Allele A
OR 0.21
p 1.0e-26
N 114,999
Major Consortium StudyLarge GWAS
European
level of 11-beta-hydroxysteroid dehydrogenase 1 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 G
OR 0.25
p 8.0e-24
N 47,745
Large GWAS
European
epididymis-specific alpha-mannosidase measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.16
p 6.0e-20
N 47,745
Large GWAS
European
level of sphingomyelin phosphodiesterase 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 G
OR 0.20
p 5.0e-18
N 47,745
Large GWAS
European
omega-6:omega-3 polyunsaturated fatty acid ratio
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.19
p 3.0e-17
N 88,268
Large GWAS
European
docosahexaenoic acid measurement
Borges MC et al. “Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants.” Bmc Medicine 20(1):210 (2022)
Allele A
OR 0.16
p 3.0e-16
N 114,999
Major Consortium StudyLarge GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.15
p 1.0e-11
N 88,268
Large GWAS
European
palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.32
p 4.0e-14
N 6,136
Large GWAS
European
level of Sterol ester (27:1/18:3) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele G
OR 0.28
p 9.0e-14
N 7,174
Large GWAS
European
proprotein convertase subtilisin/kexin type 9 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.18
p 4.0e-13
N 47,745
Large GWAS
European
About MAU2
Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Jul 2025]
View all MAU2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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