rs62126382
This variant is located in the CERS4 gene.
▶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.
glycosyl ceramide (d18:1/20:0, d16:1/22:0) 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 0.30
p 2.0e-38
N 6,136
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.13
p 2.0e-33
N 4,935
Large GWAS
European
eicosenoyl sphingomyelin measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.21
p 2.0e-36
N 7,900
Large GWAS
multi-ancestry
sphingomyelin measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.08
p 8.0e-31
N 4,959
Large GWAS
European
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 0.06
p 9.0e-11
N 5,662
Large GWAS
South Asian
level of N-stearoylsphingosine-1-phosphocholine in blood
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.13
p 2.0e-20
N 11,209
Large GWAS
multi-ancestry
level of sphingomyelin d18:1/18:1 in blood
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.13
p 1.0e-18
N 10,182
Large GWAS
multi-ancestry
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.22
p 2.0e-18
N 3,926
Large GWAS
Hispanic or Latin American
blood metabolite level
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.14
p 9.0e-16
N 7,435
Large GWAS
multi-ancestry
gout
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.96
p 4.0e-15
N 2,206,883
Large GWAS
European
glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.14
p 1.0e-12
N 5,646
Large GWAS
multi-ancestry
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.08
p 2.0e-12
N 4,941
Large GWAS
European
sphingomyelin (d18:1/19:0, d19:1/18:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.14
p 1.0e-12
N 6,171
Large GWAS
multi-ancestry
About CERS4
Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all CERS4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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