rs838147

This variant is located in the IZUMO1 gene.

GWAS Catalog Trait Associations (18)

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

milk amount

Allele A
OR 17.68
p 6.0e-70
N 980
Small GWAS
multi-ancestry

body height

Allele A
OR 0.01
p 3.0e-62
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-26
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 G
OR 0.02
p 6.0e-23
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 G
OR 0.02
p 1.0e-22
N 450,015
Large GWAS
multi-ancestry

level of phosphatidylcholine

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
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 G
OR 0.02
p 1.0e-20
N 450,015
Large GWAS
multi-ancestry

free cholesterol measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 5.0e-20
N 450,015
Large GWAS
multi-ancestry

total cholesterol measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-17
N 450,015
Large GWAS
multi-ancestry

total lipids in IDL

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-17
N 450,015
Large GWAS
multi-ancestry

About IZUMO1

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]

View all IZUMO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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