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: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE However, genotypes TT (SHMT1 rs4925166), CC (ERG rs2836425), GG (MAZ rs34286592), and GG (SHMT1 rs1979277) had the highest negative association (protective effect) with MS, respectively. 30456721 2019
dbSNP: rs1027720509
rs1027720509
Entrez Id: 6470;102466733
Gene Symbol: SHMT1;MIR6778
SHMT1;MIR6778
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 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: rs1027720509
rs1027720509
Entrez Id: 6470;102466733
Gene Symbol: SHMT1;MIR6778
SHMT1;MIR6778
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 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: rs1331681068
rs1331681068
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 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: rs1331681068
rs1331681068
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 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: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE Among the 11 SNPs, donor liver mutation in rs1979277 (G > A) was adversely associated with post-transplant hepatitis B recurrence (p = 0.042). 29627528 2018
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE This model depicted hypertension and alcohol intake as the key predictors of CAD risk followed by cSHMT C1420T, GCPII C1561T, diabetes, GSTT1, CYP1A1 m2, TYMs 5'-UTR 28 bp tandem repeat and MTRR A66G. 29995270 2018
dbSNP: rs9909104
rs9909104
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0018798
Disease:
Congenital Heart Defects
0.010 GeneticVariation BEFREE SSRI use was obtained from telephone interviews with mothers.<b>Results</b> For women who reported taking SSRIs periconceptionally, maternal SHMT1 (rs9909104) GG and AGgenotypes were associated with a 5.9 and 2.4 increased risk of select congenital heart defects in offspring, respectively, versus the AA genotype (BFDP=0.69). 28264803 2017
dbSNP: rs11868708
rs11868708
Entrez Id: 6470;102466733
Gene Symbol: SHMT1;MIR6778
SHMT1;MIR6778
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The rs11868708 variant was not associated with risk/protection of childhood ALL (P>0.05). 26950450 2016
dbSNP: rs2273027
rs2273027
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The results showed that rs9901160, rs2273027 as well as rs1979277 polymorphism significantly increased the risk of childhood ALL (P<0.05). 26950450 2016
dbSNP: rs9909104
rs9909104
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE While, rs9909104 polymorphism significantly decreased the ALL risk (P<0.05). 26950450 2016
dbSNP: rs1335035506
rs1335035506
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Our results of the pooled subjects showed a significantly enhanced NHL risk for CBS Ex9 + 33C > T (T versus C: OR 1.55, 95% CI 1.22-1.96, P = 0.0003), CBS Ex18-319G > A (A versus G: OR 1.15, 95% CI 1.14-1.83; P = 0.002), SHMT1 Ex12 + 236 T > C (T versus C: OR 1.44, 95% CI 1.15-1.81, P = 0.002), and TYMS Ex8 + 157C > T (T versus C: OR 1.29, 95% CI 1.06-1.57, P = 0.01). 25384508 2015
dbSNP: rs148701087
rs148701087
Entrez Id: 6470;102466733
Gene Symbol: SHMT1;MIR6778
SHMT1;MIR6778
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Our results of the pooled subjects showed a significantly enhanced NHL risk for CBS Ex9 + 33C > T (T versus C: OR 1.55, 95% CI 1.22-1.96, P = 0.0003), CBS Ex18-319G > A (A versus G: OR 1.15, 95% CI 1.14-1.83; P = 0.002), SHMT1 Ex12 + 236 T > C (T versus C: OR 1.44, 95% CI 1.15-1.81, P = 0.002), and TYMS Ex8 + 157C > T (T versus C: OR 1.29, 95% CI 1.06-1.57, P = 0.01). 25384508 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0220612
Disease:
Childhood Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE SHMT1 C1420T polymorphism contributes to the risk of non-Hodgkin lymphoma: evidence from 7309 patients. 26666829 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0280100
Disease:
Solid Neoplasm
0.010 GeneticVariation BEFREE A comprehensive search was conducted to identify all eligible studies of the SHMT1 rs1979277 polymorphism and solid tumor</span> risk. 26125758 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0279068
Disease:
Childhood Solid Neoplasm
0.010 GeneticVariation BEFREE A comprehensive search was conducted to identify all eligible studies of the SHMT1 rs1979277 polymorphism and solid tumor</span> risk. 26125758 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0280099
Disease:
Adult Solid Neoplasm
0.010 GeneticVariation BEFREE A comprehensive search was conducted to identify all eligible studies of the SHMT1 rs1979277 polymorphism and solid tumor</span> risk. 26125758 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0220605
Disease:
Adult Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE SHMT1 C1420T polymorphism contributes to the risk of non-Hodgkin lymphoma: evidence from 7309 patients. 26666829 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial
0.010 GeneticVariation BEFREE SHMT1 C1420T polymorphism contributes to the risk of non-Hodgkin lymphoma: evidence from 7309 patients. 26666829 2015
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C1332977
Disease:
Childhood Leukemia
0.010 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: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE SHMT1 C1420T and DNMT3B C46359T polymorphisms are not associated with HNC development in Brazilian population, however, SHMT1 C1420T polymorphism is less frequent in patients with primary site of tumor in larynx and more frequent in individuals who consume tobacco and alcohol together. 24362509 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0023051
Disease:
Laryngeal Diseases
0.010 GeneticVariation BEFREE SHMT1 C1420T and DNMT3B C46359T polymorphisms are not associated with HNC development in Brazilian population, however, SHMT1 C1420T polymorphism is less frequent in patients with primary site of tumor in larynx and more frequent in individuals who consume tobacco and alcohol together. 24362509 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE SHMT1 C1420T and DNMT3B C46359T polymorphisms are not associated with HNC development in Brazilian population, however, SHMT1 C1420T polymorphism is less frequent in patients with primary site of tumor in larynx and more frequent in individuals who consume tobacco and alcohol together. 24362509 2014
dbSNP: rs1979277
rs1979277
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
CUI: C0023418
Disease:
leukemia
0.010 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: C0023055
Disease:
Laryngeal neoplasm
0.010 GeneticVariation BEFREE SHMT1 C1420T polymorphism was associated with larynx tumor (OR 0.48; 95 % CI 0.27-0.86; P < 0.05). 24362509 2014