rs4814175
This is a intergenic variant variant.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.16
p 3.0e-41
N 14,296
Large GWAS
European
Sphingomyelin (d18:1/20:0, d16:1/22:0) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.13
p 1.0e-34
N 14,296
Large GWAS
European
myristoyl dihydrosphingomyelin (d18:0/14:0) measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.23
p 2.0e-33
N 6,136
Large GWAS
European
Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.09
p 5.0e-20
N 14,296
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.12
p 7.0e-15
N 8,254
Large GWAS
European
sphingolipid level
Chai JF et al. “Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases.” Human Molecular Genetics 29(2):189-201 (2020)
Allele A
OR 0.16
p 2.0e-16
N 1,954
Large GWAS
East Asian
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 T
OR 0.01
p 1.0e-12
N 450,015
Large GWAS
multi-ancestry
genotoxic compound exposure measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.05
p 2.0e-11
N 5,662
Large GWAS
South Asian
level of phosphatidylcholine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.07
p 2.0e-11
N 5,662
Large GWAS
South Asian
osteocalcin measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.20
p 2.0e-11
N 5,662
Large GWAS
South Asian
level of ceramide
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele T
OR 0.18
p 9.0e-17
N 4,492
Large GWAS
European
Chai JF et al. “Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases.” Human Molecular Genetics 29(2):189-201 (2020)
Allele T
OR 0.10
p 5.0e-9
N 1,954
Large GWAS
East Asian
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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