rs1979277, SHMT1

N. diseases: 45
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Solid Neoplasm
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
Childhood Solid Neoplasm
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
Adult Solid Neoplasm
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
Breast Carcinoma
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
Malignant neoplasm of breast
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
Hepatitis B
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
Colon Carcinoma
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
Malignant tumor of colon
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
Extrapulmonary Small Cell Carcinoma
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
Adult Acute Lymphocytic Leukemia
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
Childhood Acute Lymphoblastic Leukemia
0.020 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
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 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
Malignant neoplasm of breast
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
Breast Carcinoma
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
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE DNMT3B C46359T and SHMT1 C1420T polymorphisms in the folate pathway in carcinogenesis of head and neck. 24362509 2014
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. 21687976 2012
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. 21687976 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A). 25648260 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A). 25648260 2015
Multiple Sclerosis
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
Adenoma of large intestine
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE In a meta-analysis of folate-pathway polymorphisms, MTR 2756A > G (eight studies, OR = 1.06; 95% CI 1.00, 1.12; P = 0.06) and SHMT1 1420C > T (two studies, OR = 1.11; 95% CI 1.00, 1.22; P = 0.05) were positively associated with prostate cancer risk. 23724740 2013
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.020 GeneticVariation BEFREE In a meta-analysis of folate-pathway polymorphisms, MTR 2756A > G (eight studies, OR = 1.06; 95% CI 1.00, 1.12; P = 0.06) and SHMT1 1420C > T (two studies, OR = 1.11; 95% CI 1.00, 1.22; P = 0.05) were positively associated with prostate cancer risk. 23724740 2013
Primary malignant neoplasm
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
Malignant Neoplasms
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