|Influences folate metabolism|
|(A;A)||2.5||0.50 reduced risk of cleft lip / palate, 0.51 reduced risk of non-Hodgkin lymphoma. Increased responsiveness to homocysteine-lowering effects of folic acid.|
|(A;G)||1.1||0.94 reduced risk of cleft lip / palate|
|(G;G)||0||common in clinvar|
rs234706, also known as c.699C>T and C699T, represents a common variant in the CBS gene on chromosome 21. The most common allele for this SNP is rs234706(G) as named in dbSNP orientation, or (C) if in cDNA orientation; the only somewhat less common allele, found in one or two copies in 40 - 50% of the individuals in most populations, is rs234706(A), also known as 699T.
There is significant uncertainty, and even to some extent controversy, over the consequences of the the 699T allele. Some individuals believe it leads to upregulation of the CBS gene, and (eventually) an overproduction of ammonia and/or a decrease in glutathione. Most peer-reviewed publications feel that there is little to no evidence for any negative effect of the 699T variant.
Being investigated in Ehlers-Danlos syndrome
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[PMID 19048631] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
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|Disease||not specified Thoracic aortic aneurysm and aortic dissection|
|CLNDBN||not specified Thoracic aortic aneurysm and aortic dissection|
[PMID 26955774] The association of single nucleotide polymorphisms of the maternal cystathionine-β-synthase gene with early-onset preeclampsia.