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rs234706

From SNPedia

Influences folate metabolism
Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome21
Position43065240
GeneCBS
is asnp
is mentioned by
dbSNPrs234706
dbSNP (classic)rs234706
ClinGenrs234706
ebirs234706
HLIrs234706
Exacrs234706
Gnomadrs234706
Varsomers234706
LitVarrs234706
Maprs234706
PheGenIrs234706
Biobankrs234706
1000 genomesrs234706
hgdprs234706
ensemblrs234706
geneviewrs234706
scholarrs234706
googlers234706
pharmgkbrs234706
gwascentralrs234706
openSNPrs234706
23andMers234706
SNPshotrs234706
SNPdbers234706
MSV3drs234706
GWAS Ctlgrs234706
GMAF0.2185
Max Magnitude2.5

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 17119116OA-icon.png] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.


[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.


[PMID 17697348OA-icon.png] 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 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.


[PMID 18708408OA-icon.png] Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.


[PMID 19048631OA-icon.png] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.


[PMID 19064578OA-icon.png] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.


[PMID 19336559OA-icon.png] Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 23882023OA-icon.png] Network based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits


[PMID 23913011OA-icon.png] 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.