rs2782

This variant is located in the SCO2 gene.

▶

GWAS Catalog Trait Associations (3)

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

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p —
N 696,882
Large GWAS
multi-ancestry

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.03
p 2.0e-41
N 531,774
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…