rs838145

This is a regulatory region variant variant in the IZUMO1 gene.

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GWAS Catalog Trait Associations (14)

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

milk amount

Ambalavanan A et al. “Human milk oligosaccharides are associated with maternal genetics and respiratory health of human milk-fed children.” Nature Communications 15(1):7735 (2024)
Allele A
OR 19.56
p 3.0e-85
N 980
Small GWAS
multi-ancestry

total cholesterol 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 0.03
p 7.0e-36
N 480,086
Large GWAS
multi-ancestry

taste liking measurement

May-Wilson S et al. “Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits.” Nature Communications 13(1):2743 (2022)
Allele A
OR 0.10
p 6.0e-24
N 158,306
Large GWAS
European

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 6.0e-19
N 408,112
Large GWAS
European

esterified 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 A
OR 0.02
p 1.0e-16
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in large LDL measurement

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 0.02
p 2.0e-16
N 450,015
Large GWAS
multi-ancestry

alcohol consumption quality

Evangelou E et al. “New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders.” Nature Human Behaviour 3(9):950-961 (2019)
Allele A
OR 0.01
p 3.0e-15
N 480,842
Large GWAS
European
Karlsson Linnér R et al. “Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.” Nature Genetics 51(2):245-257 (2019)
Allele A
OR 0.02
p 2.0e-11
N 414,343
Large GWAS
European
Brazel DM et al. “Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.” Biological Psychiatry 85(11):946-955 (2019)
Allele A
OR 0.02
p 9.0e-12
N 357,854
Meta-analysisLarge GWAS
European

cholesterol in large LDL measurement

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 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large LDL measurement

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 5.0e-12
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

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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