rs1979277

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1979277(A;A)

Make rs1979277(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

18328782

Gene

SHMT1

is a	snp
is	mentioned by
dbSNP	rs1979277
dbSNP (classic)	rs1979277
ClinGen	rs1979277
ebi	rs1979277
HLI	rs1979277
Exac	rs1979277
Gnomad	rs1979277
Varsome	rs1979277
LitVar	rs1979277
Map	rs1979277
PheGenI	rs1979277
Biobank	rs1979277
1000 genomes	rs1979277
hgdp	rs1979277
ensembl	rs1979277
geneview	rs1979277
scholar	rs1979277
google	rs1979277
pharmgkb	rs1979277
gwascentral	rs1979277
openSNP	rs1979277
23andMe	rs1979277
SNPshot	rs1979277
SNPdbe	rs1979277
MSV3d	rs1979277
GWAS Ctlg	rs1979277

GMAF

0.2461

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 21178087 ] Polymorphisms in Serine Hydroxymethyltransferase 1 and Methylenetetrahydrofolate Reductase Interact to Increase Cardiovascular Disease Risk in Humans

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

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

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

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

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

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

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

[PMID 19376481 ] 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 19776626 ] Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.

[PMID 20111745 ] 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.

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

[PMID 23913011 ] 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	UniProtKB (protein)
CLNACC	RCV000144920.1,

[PMID 29627528] The association between donor genetic variations in one-carbon metabolism pathway genes and hepatitis B recurrence after liver transplantation.

[PMID 33369477 ] Gene Polymorphisms Involved in Folate Metabolism and DNA Methylation with the Risk of Head and Neck Cancer.