rs7313056

This is a regulatory region variant variant in the MYO1H gene.

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GWAS Catalog Trait Associations (8)

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

lipoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-27
N 450,015
Large GWAS
multi-ancestry

phosphoglycerides measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-22
N 450,015
Large GWAS
multi-ancestry

choline measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-21
N 450,015
Large GWAS
multi-ancestry

total lipids in large LDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-21
N 450,015
Large GWAS
multi-ancestry

total phospholipids in lipoprotein particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-17
N 450,015
Large GWAS
multi-ancestry

free cholesterol in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 6.0e-14
N 450,015
Large GWAS
multi-ancestry

sphingomyelin measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 9.0e-11
N 450,015
Large GWAS
multi-ancestry

About MYO1H

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization; actin filament-based movement; and endocytosis. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and plasma membrane. Implicated in congenital central hypoventilation syndrome. [provided by Alliance of Genome Resources, Jul 2025]

View all MYO1H variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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