rs131805
This variant is located in the SCO2 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
5-methyluridine (ribothymidine) 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 T
OR 0.49
p —
N 14,296
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.58
p 3.0e-204
N 9,821
Large GWAS
multi-ancestry
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.38
p 8.0e-103
N 8,809
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 T
OR 0.57
p 2.0e-240
N 8,168
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 0.18
p 5.0e-128
N 4,959
Large GWAS
European
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele T
OR 0.50
p 1.0e-27
N 2,466
Large GWAS
multi-ancestry
level of thymidine phosphorylase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.20
p 2.0e-169
N 47,745
Large GWAS
European
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 T
OR 0.62
p 4.0e-82
N 3,926
Large GWAS
Hispanic or Latin American
cerebrospinal fluid composition attribute, 5-methyluridine (ribothymidine) measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele T
OR 0.04
p 2.0e-72
N 2,602
Large GWAS
European
2'-deoxyuridine measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.32
p 1.0e-68
N 7,915
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.33
p 5.0e-57
N 8,192
Large GWAS
multi-ancestry
uridine 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 T
OR 0.15
p 1.0e-34
N 14,296
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.18
p 2.0e-22
N 10,683
Large GWAS
multi-ancestry
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.16
p 1.0e-19
N 8,809
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 T
OR 0.15
p 1.0e-16
N 8,253
Large GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.18
p 5.0e-17
N 5,357
Large GWAS
European
hemoglobin measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele C
OR 0.06
p 2.0e-11
N 38,553
Large GWAS
European
granulocyte percentage of myeloid white cells
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.03
p 7.0e-9
N 169,545
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters1 publicationCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; not provided
View on ClinVar →About SCO2
Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
View all SCO2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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