rs7122026

This variant is located in the SBF2 gene.

GWAS Catalog Trait Associations (4)

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

total lipids in large HDL

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in large VLDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry

uric acid measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 1.0e-9
N 473,241
Large GWAS
multi-ancestry

About SBF2

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

View all SBF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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