SHMT1, serine hydroxymethyltransferase 1, 6470

N. diseases: 106; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE Still, the influence of the 1420 C>T polymorphism of the cSHMT gene on the folate-related risk of NTD needs further investigation. 11386852 2001
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk. 11986237 2002
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Polymorphisms in thymidylate synthase (TS) 28-bp tandem repeats in the promoter region and in cytosolic serine hydroxymethyltransferase (SHMT1 C1420T) have been reported to modulate the risk of adult acute lymphocytic leukemia (ALL). 12604405 2003
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple repeat [3R]-->double repeat [2R], 1494del6, IVS6 -68C>T, 1122A>G, and 1053C>T); 5,10-methylenetetrahydrofolate reductase (MTHFR 677C>T and 1298A>C); serine hydroxymethyltransferase (SHMT1 C1420T); reduced folate carrier (RFC G80A); and methionine synthase (MTR A2756G), making the present study the largest and most comprehensive to date to evaluate associations between genetic polymorphisms in folatemetabolizing genes and NHL risk. 15198953 2004
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE Plasma total homocysteine concentrations were highest in the subgroup of me</span>n with both polymorphisms, MTHFR 677C-->T TT and cSHMT 1420C-->T TT, consistent with a higher risk of CVD in this subgroup. 16046727 2005
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China. 17206530 2007
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C4722419
Disease:
Extrapulmonary Small Cell Carcinoma
0.010 GeneticVariation BEFREE Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China. 17206530 2007
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1302401
Disease:
Adenoma of large intestine
0.010 GeneticVariation BEFREE In a case-control study, including 768 cases and 709 controls, we investigated the associations between colorectal adenomas and TS tandem repeat and SHMT1 C1420T polymorphisms, and the interplay with B-vitamins. 17113224 2007
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1333762
Disease:
Gastric Cardia Adenocarcinoma
0.010 GeneticVariation BEFREE To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China. 17206530 2007
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0039483
Disease:
Giant Cell Arteritis
0.010 GeneticVariation BEFREE The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. 17206530 2007
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. 17206530 2007
dbSNP: rs372150314
rs372150314
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0677886
Disease:
Epithelial ovarian cancer
0.010 GeneticVariation BEFREE Each copy of the minor allele in SHMT1 intron 5 A>G (rs9909104) was associated with epithelial ovarian cancer [odds ratio (OR), 1.2; 95% confidence interval (95% CI), 1.0-1.4; P trend = 0.02; FPRP = 0.16] and a 5-SNP SHMT1 haplotype was associated with decreased risk (P = 0.01; FPRP = 0.09). 18381459 2008
dbSNP: rs372150314
rs372150314
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Each copy of the minor allele in SHMT1 intron 5 A>G (rs9909104) was associated with epithelial ovarian cancer [odds ratio (OR), 1.2; 95% confidence interval (95% CI), 1.0-1.4; P trend = 0.02; FPRP = 0.16] and a 5-SNP SHMT1 haplotype was associated with decreased risk (P = 0.01; FPRP = 0.09). 18381459 2008
dbSNP: rs9909104
rs9909104
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0677886
Disease:
Epithelial ovarian cancer
0.010 GeneticVariation BEFREE Each copy of the minor allele in SHMT1 intron 5 A>G (rs9909104) was associated with epithelial ovarian cancer [odds ratio (OR), 1.2; 95% confidence interval (95% CI), 1.0-1.4; P trend = 0.02; FPRP = 0.16] and a 5-SNP SHMT1 haplotype was associated with decreased risk (P = 0.01; FPRP = 0.09). 18381459 2008
dbSNP: rs9909104
rs9909104
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Each copy of the minor allele in SHMT1 intron 5 A>G (rs9909104) was associated with epithelial ovarian cancer [odds ratio (OR), 1.2; 95% confidence interval (95% CI), 1.0-1.4; P trend = 0.02; FPRP = 0.16] and a 5-SNP SHMT1 haplotype was associated with decreased risk (P = 0.01; FPRP = 0.09). 18381459 2008
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism. 19440165 2009
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE A nested case-control study within the Nurses' Health Study was used to investigate an association between cSHMT (1420C --> T) and breast cancer risk. 19707223 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE A nested case-control study within the Nurses' Health Study was used to investigate an association between cSHMT (1420C --> T) and breast cancer risk. 19707223 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Vitamin B(12), holo-haptocorrin, and the folate-pathway single-nucleotide polymorphisms MTR 2756A>G and SHMT1 1420C>T have been associated with an increased risk of prostate cancer. 20852008 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Vitamin B(12), holo-haptocorrin, and the folate-pathway single-nucleotide polymorphisms MTR 2756A>G and SHMT1 1420C>T have been associated with an increased risk of prostate cancer. 20852008 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. 20920350 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. 20920350 2010
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE In the Health Professionals Follow-Up Study, the MTHFR rs1801133 genotype was not associated with CVD risk, nor was there an interaction with SHMT1 rs1979277. 21178087 2011
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752 2012
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752 2012