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rs1801181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1801181(C;T)
Make rs1801181(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43060506
GeneCBS
is asnp
is mentioned by
dbSNPrs1801181
dbSNP (classic)rs1801181
ClinGenrs1801181
ebirs1801181
HLIrs1801181
Exacrs1801181
Gnomadrs1801181
Varsomers1801181
LitVarrs1801181
Maprs1801181
PheGenIrs1801181
Biobankrs1801181
1000 genomesrs1801181
hgdprs1801181
ensemblrs1801181
geneviewrs1801181
scholarrs1801181
googlers1801181
pharmgkbrs1801181
gwascentralrs1801181
openSNPrs1801181
23andMers1801181
SNPshotrs1801181
SNPdbers1801181
MSV3drs1801181
GWAS Ctlgrs1801181
GMAF0.3269
Max Magnitude0

Being investigated in Ehlers-Danlos syndrome


[PMID 17035141OA-icon.png] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.


[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 18098291] Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.


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


[PMID 19112534OA-icon.png] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.


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


[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.


[PMID 23913011OA-icon.png] Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma


ClinVar
Risk rs1801181(T;T)
Alt rs1801181(T;T)
Reference Rs1801181(C;C)
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 1
HGVS NC_000021.8:g.44480616G>A
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000078107.7, RCV000244095.1, RCV000313339.1,