rs2232775

This is a variant in the NDUFA7 gene that changes a glutamine to an arginine.

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GWAS Catalog Trait Associations (3)

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

vitamin B12 measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele C

OR 0.23

p 3.0e-115

N 38,000

Large GWAS

South Asian

vitamin B12 deficiency

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele T

OR 0.20

p 4.0e-19

N 620,960

Major Consortium StudyLarge GWAS

multi-ancestry

level of transcobalamin-2 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)

Allele C

OR 0.53

p 5.0e-13

N 466

Small GWAS

African American or Afro-Caribbean

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ClinVar annotation

Benign★☆☆☆

4 submitters2 publications

Methylmalonic acidemia due to transcobalamin receptor defect (MATR); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Folate and vitamin B12-related genes and risk for omphalocele

AssociationN=930James L. Mills et al.(2012)· Human Genetics

Case-control study of 169 omphalocele cases and 761 controls examining variants in folate, vitamin B12, and homocysteine metabolism genes. Variants in transcobalamin receptor (TCblR) rs2232775 (Q8R) and methylenetetrahydrofolate reductase (MTHFR) rs1801131 (1298A>C) were significantly associated with omphalocele (TCblR OR=3.20, p=0.0017; MTHFR OR=2.04, p=0.028). Additional race-ethnicity-specific associations were found with TCN2, BHMT rs3733890, and FOLH1 variants, suggesting disruption of methylation reactions as a potential risk factor.

Traits studied:Omphalocele

PubMed DOI Metascience Observatory

About NDUFA7

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]