Have questions? Visit https://www.reddit.com/r/SNPedia

rs1979277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1979277(A;A)
Make rs1979277(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position18328782
GeneSHMT1
is asnp
is mentioned by
dbSNPrs1979277
ebirs1979277
HLIrs1979277
Exacrs1979277
Varsomers1979277
Maprs1979277
PheGenIrs1979277
hapmaprs1979277
1000 genomesrs1979277
hgdprs1979277
ensemblrs1979277
gopubmedrs1979277
geneviewrs1979277
scholarrs1979277
googlers1979277
pharmgkbrs1979277
gwascentralrs1979277
openSNPrs1979277
23andMers1979277
23andMe allrs1979277
SNP Nexus

SNPshotrs1979277
SNPdbers1979277
MSV3drs1979277
GWAS Ctlgrs1979277
GMAF0.2461
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 21178087OA-icon.png] Polymorphisms in Serine Hydroxymethyltransferase 1 and Methylenetetrahydrofolate Reductase Interact to Increase Cardiovascular Disease Risk in Humans


[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 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.


[PMID 17420066OA-icon.png] Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: a case-control analysis.


[PMID 18381459OA-icon.png] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.


[PMID 18521744OA-icon.png] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.


[PMID 18708404OA-icon.png] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.


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


[PMID 19376481OA-icon.png] One-carbon metabolism and breast cancer: an epidemiological perspective.


[PMID 19706844] Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.


[PMID 19776626OA-icon.png] Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.


[PMID 20111745OA-icon.png] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.


[PMID 20458436] Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.


[PMID 20852008] Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.


[PMID 21687976] Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.


GET Evidence
SHMT1-L474F
aa_change Leu474Phe
aa_change_short L474F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.310698
summary



[PMID 23401104] Folate-genetics and colorectal neoplasia: what we know and need to know next


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


[PMID 25227144] Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome


ClinVar
Risk rs1979277(A;A)
Alt rs1979277(A;A)
Reference rs1979277(G;G)
Significance Unknown
Disease Gastrointestinal stromal tumor
Variation info
Gene SHMT1
CLNDBN Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000017.10:g.18232096G>A
CLNSRC ClinVar University of Bologna
CLNACC RCV000144920.1,