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SNP information rs10064631

RS10064631

Normal allele: CC

Methionine synthase deficiency, impairing the metabolism of folic acid B9 and cobalamin B12.

Polymorphism rs10064631 is related to topics like this:

Folate and mthfr

MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate,...

Mthfr and B12

Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a...

Mitochondria dna

The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...

Research and publications:

  10484769   Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

  19493349   118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

  19683694   Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

  21146954   Genes and abdominal aortic aneurysm

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Mthfr and magnesium DNA

Magnesium stands out as one of the most vital nutrients for overall health, facilitating over 300...

Zinc finger protein

Zinc finger proteins constitute the most extensive transcription factor family within the human...

Wilson disease gene

Wilson's disease is an autosomal recessive condition, necessitating that both parents carry at...

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