rs234706
| Influences folate metabolism |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 43065240 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs234706 |
| dbSNP (classic) | rs234706 |
| ClinGen | rs234706 |
| ebi | rs234706 |
| HLI | rs234706 |
| Exac | rs234706 |
| Gnomad | rs234706 |
| Varsome | rs234706 |
| LitVar | rs234706 |
| Map | rs234706 |
| PheGenI | rs234706 |
| Biobank | rs234706 |
| 1000 genomes | rs234706 |
| hgdp | rs234706 |
| ensembl | rs234706 |
| geneview | rs234706 |
| scholar | rs234706 |
| rs234706 | |
| pharmgkb | rs234706 |
| gwascentral | rs234706 |
| openSNP | rs234706 |
| 23andMe | rs234706 |
| SNPshot | rs234706 |
| SNPdbe | rs234706 |
| MSV3d | rs234706 |
| GWAS Ctlg | rs234706 |
| GMAF | 0.2185 |
| Max Magnitude | 2.5 |
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.[1]
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Being investigated in Ehlers-Danlos syndrome
[PMID 17119116
] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 17697348] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 18098291] Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18708408] Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.
[PMID 19048631] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19336559] Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 23882023] Network based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits
[PMID 23913011] Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma
| ClinVar | |
|---|---|
| Risk | Rs234706(A;A) |
| Alt | Rs234706(A;A) |
| Reference | Rs234706(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection Homocystinuria |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection Homocystinuria |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44485350G>A |
| CLNSRC | HGMD |
| CLNACC | RCV000078110.7, RCV000247442.1, RCV000377779.1, |
[PMID 26955774] The association of single nucleotide polymorphisms of the maternal cystathionine-β-synthase gene with early-onset preeclampsia.
