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: rs7207306
rs7207306
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8067462
rs8067462
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE Irrespective of cancer status, several SNPs were found to be associated with altered serum folate concentrations, including the D919G SNP in methionine synthase (MTR), the L474F SNP in serine hydroxymethyl transferase 1 (SHMT1) and the V175M SNP in phosphatidyl ethanolamine methyltransferase (PEMT). 29474406 2018
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE Irrespective of cancer status, several SNPs were found to be associated with altered serum folate concentrations, including the D919G SNP in methionine synthase (MTR), the L474F SNP in serine hydroxymethyl transferase 1 (SHMT1) and the V175M SNP in phosphatidyl ethanolamine methyltransferase (PEMT). 29474406 2018
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Therefore, our meta-analysis suggested that the SHMT1 C1420T polymorphism was associated with decreased risk of breast cancer. 26125758 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Therefore, our meta-analysis suggested that the SHMT1 C1420T polymorphism was associated with decreased risk of breast cancer. 26125758 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE SHMT1 C1420T may lead to the abnormal biosynthesis involved in DNA synthesis and methylation, and it may eventually increase cancer susceptibility. 26666829 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE SHMT1 C1420T may lead to the abnormal biosynthesis involved in DNA synthesis and methylation, and it may eventually increase cancer susceptibility. 26666829 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE In summary, the findings suggest that SHMT1 C1420T polymorphism is not associated with overall cancer development, but might decrease cancer susceptibility of Asians as well as reduce leukemia risk. 24716966 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Our meta-analysis failed to detect association between SH</span>MT1 C1420T polymorphism and breast cancer risk. 24789272 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE Our results indicate that the SHMT1 C1420T polymorphism do not have a significant association with the risk of cancer overall. 25194438 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.040 GeneticVariation BEFREE In summary, the findings suggest that SHMT1 C1420T polymorphism is not associated with overall cancer development, but might decrease cancer susceptibility of Asians as well as reduce leukemia risk. 24716966 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Our meta-analysis failed to detect association between SH</span>MT1 C1420T polymorphism and breast cancer risk. 24789272 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE Our results indicate that the SHMT1 C1420T polymorphism do not have a significant association with the risk of cancer overall. 25194438 2014
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
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: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus.Birth Defects Research, 2017.© 2017 Wiley Periodicals, Inc. 28411382 2017
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0027794
Disease:
Neural Tube Defects
0.030 GeneticVariation BEFREE The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. 28762673 2017
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE Otherwise, SHMT1 C1420T polymorphism may have a protective effect on colorectal cancer and Asian population. 25194438 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R). 23401104 2013
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE In the overall analysis, association was lacking between the C1420T polymorphism and CRC risk (odds ratio [OR] 0.96-1.04, p = 0.47-0.77), materially unchanged when reanalyzed without the Hardy-Weinberg equilibrium-deviating studies (OR 1.03-1.09, p = 0.22-0.55) or subjected to outlier treatment (OR 0.89-0.99, p = 0.10-0.8). 23322534 2013
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. 22838948 2012
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