rs111234557

This is a upstream gene variant variant in the MAU2 gene.

▶

GWAS Catalog Trait Associations (2)

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

low density lipoprotein cholesterol measurement

Ismail Umlai UK et al. “A multi-ancestry genome-wide association study and evaluation of polygenic scores of LDL-C levels.” Journal of Lipid Research 66(3):100752 (2025)

Allele G

OR 0.26

p 3.0e-12

N 5,939

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1] measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele G

OR 0.23

p 6.0e-12

N 5,392

Large GWAS

multi-ancestry

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…