Upload the DNA data file of the test

23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage

and get an enhanced
personalized health report
free without registration

Files accepted .txt, .csv, .zip, .csv.gz

File data is not stored on the server

SNP information rs121964972

RS121964972

Normal allele: GG

Breakage increases the likelihood of homocystinuria, which is insensitive to vitamin B6.

Polymorphism rs121964972 is related to topics like this:

B6 for mthfr

Vitamin B6, belonging to the group of water-soluble B vitamins, manifests in three primary forms:...

Research and publications:

  9156316   Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

  12124992   The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

  12686134   Structural insights into mutations of cystathionine beta-synthase.

  14635102   Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

  16205833   Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

  16479318   The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

  21520339   Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

  22267502   Surrogate genetics and metabolic profiling for characterization of human disease alleles.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  24211323   High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

  28583326   Cystathionine β-synthase deficiency: Of mice and men.

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...

Mthfr and magnesium DNA

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

List of all diseases
en
|
de
|
fr
|
es
|
it
|
ua
|
ru

About

Documents

Support