chr1:236885200:A>G Detail (hg38) (MTR)

Information

Genome

Assembly Position
hg19 chr1:237,048,500-237,048,500 View the variant detail on this assembly version.
hg38 chr1:236,885,200-236,885,200

HGVS

Type Transcript Protein
RefSeq NM_000254.2:c.2756A>G NP_000245.2:p.Asp919Gly
NM_001291939.1:c.2603A>G NP_001278868.1:p.Asp868Gly
NM_001291940.1:c.2603A>G NP_001278869.1:p.Asp868Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.161
ToMMo:0.192
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.113

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 156570 OMIM
HGNC 7468 HGNC
Ensembl ENSG00000116984 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5292511 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2003-09-01 no assertion criteria provided Neural tube defects, folate-sensitive, susceptibility to germline Detail
Benign 2013-09-09 criteria provided, single submitter not specified germline Detail
Uncertain significance no assertion criteria provided gastrointestinal stromal tumor germline Detail
Benign 2018-03-06 criteria provided, single submitter Disorders of Intracellular Cobalamin Metabolism germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Methylcobalamin deficiency type cblG germline Detail
Benign 2023-11-29 criteria provided, single submitter not provided germline Detail
Likely benign 2020-07-29 criteria provided, single submitter MTR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
0.005 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.231 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.003 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.007 congenital heart defects Analyses of the study data provided marginal evidence that the maternal MTR A275... BeFree 19777601 Detail
0.010 congenital heart defects Analyses of the study data provided marginal evidence that the maternal MTR A275... BeFree 19777601 Detail
0.010 coronary artery disease To investigate the association between 3 major polymorphisms in genes encoding e... BeFree 22339686 Detail
<0.001 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.003 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.003 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.136 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.006 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.239 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.040 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.024 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.153 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.003 cervix carcinoma Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.004 ovarian carcinoma Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.013 Malignant neoplasm of ovary Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.006 Malignant tumor of cervix Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
<0.001 ovarian carcinoma Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.001 Malignant tumor of cervix Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.003 Malignant neoplasm of ovary Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.010 cervix carcinoma Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.009 Malignant neoplasm of prostate Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
<0.001 stomach carcinoma In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.006 coronary artery disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
<0.001 Malignant neoplasm of liver In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.003 Malignant neoplasm of stomach In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.148 male infertility We found no evidence for an association between any of these variants (MTHFR C67... BeFree 25578539 Detail
0.007 Coronary heart disease Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.153 Down syndrome Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control... BeFree 24068460 Detail
0.010 coronary artery disease In contrast, the association of the substitutions A2756G of methionine synthase ... BeFree 16268464 Detail
0.010 Coronary heart disease Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.007 Coronary heart disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.010 Malignant neoplasm of prostate Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
<0.001 Brain Tumor, Primary To test the hypothesis that polymorphic variation in the folate metabolism genes... BeFree 18483342 Detail
0.006 Down syndrome Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control... BeFree 24068460 Detail
0.001 Squamous cell carcinoma of the head and neck Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such a... BeFree 17596206 Detail
0.123 male infertility We found no evidence for an association between any of these variants (MTHFR C67... BeFree 25578539 Detail
0.001 prostate carcinoma Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
<0.001 Malignant neoplasm of liver In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.006 Coronary Arteriosclerosis Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.006 Coronary Arteriosclerosis We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.010 Coronary heart disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
<0.001 Squamous cell carcinoma of the head and neck None of the polymorphisms showed any significant impact on HNSCC risk by genotyp... BeFree 17596206 Detail
0.046 Coronary Arteriosclerosis We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.030 Malignant neoplasm of prostate Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
0.006 Coronary Arteriosclerosis Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.006 Coronary Arteriosclerosis We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.239 Coronary heart disease This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and ... BeFree 21780915 Detail
0.024 Down syndrome Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control... BeFree 24068460 Detail
0.007 Coronary heart disease This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and ... BeFree 21780915 Detail
<0.001 Brain Tumor, Primary To test the hypothesis that polymorphic variation in the folate metabolism genes... BeFree 18483342 Detail
0.005 Malignant neoplasm of pancreas We conducted a case-control study to assess the effect of alcohol on pancreatic ... BeFree 18843018 Detail
<0.001 prostate carcinoma Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
0.002 Squamous cell carcinoma of the head and neck None of the polymorphisms showed any significant impact on HNSCC risk by genotyp... BeFree 17596206 Detail
0.010 Coronary heart disease This meta-analysis demonstrated a suggestive result that the A66G variant in MTR... BeFree 24595101 Detail
0.239 Coronary heart disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.004 prostate carcinoma Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
0.003 pancreatic carcinoma We conducted a case-control study to assess the effect of alcohol on pancreatic ... BeFree 18843018 Detail
0.003 autistic disorder A total of 138 children diagnosed as autistic based on Diagnostic and Statistica... BeFree 19440165 Detail
0.007 Coronary heart disease This meta-analysis demonstrated a suggestive result that the A66G variant in MTR... BeFree 24595101 Detail
0.123 male infertility We found no evidence for an association between any of these variants (MTHFR C67... BeFree 25578539 Detail
<0.001 adult acute lymphocytic leukemia In a case-control study, we evaluated whether four common polymorphisms in methy... BeFree 15159311 Detail
0.040 Down syndrome Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control... BeFree 24068460 Detail
<0.001 Squamous cell carcinoma of the head and neck None of the polymorphisms showed any significant impact on HNSCC risk by genotyp... BeFree 17596206 Detail
0.010 coronary artery disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.239 Down syndrome Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control... BeFree 24068460 Detail
<0.001 stomach carcinoma In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.135 coronary artery disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.010 Coronary heart disease This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and ... BeFree 21780915 Detail
0.003 Malignant neoplasm of stomach In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
<0.001 Deep vein thrombosis of lower limb The rationale behind this study was to examine the relationship between polymorp... BeFree 18034637 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.006 coronary artery disease Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.010 coronary artery disease Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.008 myocardial infarction The results of combined analyses of the MTR A2756G polymorphism suggested that t... BeFree 21780915 Detail
0.001 Fibrillation Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms ... BeFree 17551576 Detail
<0.001 essential hypertension Our results suggest that the effects of MTHFR C677T and MS A2756G gene polymorph... BeFree 20445573 Detail
0.004 Adenoma of large intestine Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenom... BeFree 14744749 Detail
0.123 Kidney Failure, Chronic To evaluate the respective roles of residual glomerular filtration (by measuring... BeFree 11592445 Detail
0.229 hyperhomocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
<0.001 Inflammatory Bowel Diseases In meta-analyses, only the variant MTR A2756G indicated an association with the ... BeFree 20085490 Detail
0.009 Malignant neoplasm of breast We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G pol... BeFree 19240236 Detail
0.021 breast carcinoma Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.006 Malignant neoplasm of prostate Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the dev... BeFree 22803112 Detail
0.005 breast carcinoma The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carrie... BeFree 18842997 Detail
0.003 Malignant neoplasm of breast We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G pol... BeFree 19240236 Detail
0.022 hyperhomocysteinemia Further study is needed to confirm the role of HHcy and MS A2756G mutation in th... BeFree 19263808 Detail
0.002 Carcinogenesis However, limited association is suggested between MTHFR A1298C and MS A2756G pol... BeFree 23864153 Detail
0.089 Homocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
<0.001 Ischemic stroke The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17... BeFree 11672761 Detail
0.337 hyperhomocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
<0.001 Fibrillation Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms ... BeFree 17551576 Detail
0.001 Malignant tumor of cervix No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS... BeFree 23864153 Detail
0.005 Congenital Abnormality These findings indicate that locus A2756G in the MTR gene may play a role in sus... BeFree 22855024 Detail
0.005 breast carcinoma Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.063 Kidney Failure, Chronic To evaluate the respective roles of residual glomerular filtration (by measuring... BeFree 11592445 Detail
0.008 myocardial infarction In the present study, we have investigated the frequency of the MTHFR C677T, CBS... BeFree 11672761 Detail
0.146 Homocysteinemia Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
<0.001 Cardiac Carcinoma Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of... BeFree 17726616 Detail
0.028 Malignant neoplasm of breast Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in brea... BeFree 23155246 Detail
0.014 Carcinogenesis However, limited association is suggested between MTHFR A1298C and MS A2756G pol... BeFree 23864153 Detail
0.021 breast carcinoma The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carrie... BeFree 18842997 Detail
0.001 cervix carcinoma We analyzed CpG island hypermethylation in 15 genes (APC, CDH1, COX2, DAPK, FHIT... BeFree 15589597 Detail
0.153 Down syndrome The MTR A2756G polymorphism is associated with an increase of plasma homocystein... BeFree 18060320 Detail
0.005 breast carcinoma Methionine synthase A2756G polymorphism and breast cancer risk: a meta-analysis ... BeFree 20111902 Detail
0.002 Leukemia, Lymphocytic, Acute, L1 Association between MTR A2756G polymorphism and childhood acute lymphoblastic le... BeFree 23906019 Detail
0.002 Leukemia, Lymphocytic, Acute, L1 The aim of this work was to evaluate, in a case-control study, whether the commo... BeFree 19034339 Detail
0.218 Thromboembolism The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methyle... BeFree 10963782 Detail
0.009 Malignant neoplasm of prostate Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the dev... BeFree 22803112 Detail
<0.001 Thromboembolism Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymo... BeFree 11920232 Detail
0.069 myocardial infarction Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
0.148 male infertility By analysis of a large number of subjects and a more specific patient selection,... BeFree 16861746 Detail
<0.001 Mild cognitive disorder In Xinjiang Uygur subjects, the A1298C polymorphisms in MTHFR and the A2756G pol... BeFree 25625218 Detail
<0.001 Primary central nervous system lymphoma The methionine synthase polymorphism D919G alters susceptibility to primary cent... BeFree 15138479 Detail
0.022 hyperhomocysteinemia Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
0.129 Kidney Failure, Chronic To evaluate the respective roles of residual glomerular filtration (by measuring... BeFree 11592445 Detail
<0.001 adult acute lymphocytic leukemia Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyl... BeFree 11986237 Detail
0.005 ulcerative colitis Methionine synthase A2756G polymorphism may predict ulcerative colitis and methy... BeFree 18700049 Detail
0.001 Acute lymphocytic leukemia In order to determine the influence of polymorphism in thymidylate synthase (TS ... BeFree 21643952 Detail
0.081 Vitamin B 12 Deficiency Finally, folate fortification unveiled cobalamin deficiency in some patients, as... BeFree 15063399 Detail
<0.001 stomach carcinoma Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of... BeFree 17726616 Detail
<0.001 Kidney Failure, Chronic To evaluate the respective roles of residual glomerular filtration (by measuring... BeFree 11592445 Detail
0.010 rheumatoid arthritis To investigate the distribution of the A2756G polymorphism of the methionine syn... BeFree 17611986 Detail
0.021 ulcerative colitis Methionine synthase A2756G polymorphism may predict ulcerative colitis and methy... BeFree 18700049 Detail
0.042 colorectal cancer No significant association was found between MTHFR A1298C and MTR A2756G polymor... BeFree 22719222 Detail
0.101 Malignant neoplasm of breast Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in brea... BeFree 23155246 Detail
0.004 Adenoma of large intestine Methionine synthase A2756G polymorphism interacts with alcohol and folate intake... BeFree 19124508 Detail
<0.001 Squamous cell carcinoma of esophagus No significant difference in MTR A2756G genotype distribution was observed betwe... BeFree 17726616 Detail
0.101 Malignant neoplasm of breast Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
<0.001 IgA glomerulonephritis MTR A2756G was associated with the development, but not progression, of IgA neph... BeFree 21737517 Detail
<0.001 Thromboembolism The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methyle... BeFree 10963782 Detail
0.002 Homocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
0.010 coronary artery disease Our results suggest that neither single mutation nor combined mutations in MTHFR... BeFree 11672761 Detail
<0.001 Thromboembolism A2756G-MS may protect against a thromboembolic event. BeFree 12091127 Detail
0.010 Precursor Cell Lymphoblastic Leukemia Lymphoma In order to determine the influence of polymorphism in thymidylate synthase (TS ... BeFree 21643952 Detail
<0.001 Mild cognitive disorder The A2756G polymorphism in the MS gene could be an independent risk factor for M... BeFree 25625218 Detail
0.003 retinoblastoma MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. BeFree 20310006 Detail
0.101 Malignant neoplasm of breast The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carrie... BeFree 18842997 Detail
0.088 Homocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
0.009 hyperhomocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
0.004 Adenoma of large intestine Methionine synthase A2756G polymorphism and risk of colorectal adenoma and cance... BeFree 23593229 Detail
0.022 hyperhomocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
0.048 Thromboembolism Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymo... BeFree 11920232 Detail
0.022 Precursor Cell Lymphoblastic Leukemia Lymphoma In order to determine the influence of polymorphism in thymidylate synthase (TS ... BeFree 21643952 Detail
0.028 Malignant neoplasm of breast The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carrie... BeFree 18842997 Detail
0.003 cervix carcinoma No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS... BeFree 23864153 Detail
0.006 Coronary Arteriosclerosis Our results suggest that neither single mutation nor combined mutations in MTHFR... BeFree 11672761 Detail
0.021 breast carcinoma Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in brea... BeFree 23155246 Detail
0.005 breast carcinoma Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in brea... BeFree 23155246 Detail
0.008 myocardial infarction Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine a... BeFree 11257268 Detail
0.002 colorectal carcinoma No significant association was found between MTHFR A1298C and MTR A2756G polymor... BeFree 22719222 Detail
0.123 male infertility By analysis of a large number of subjects and a more specific patient selection,... BeFree 16861746 Detail
0.337 hyperhomocysteinemia Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
0.017 Congenital Abnormality In the group of CA of the cardiovascular system, we observed an association of M... BeFree 22855024 Detail
0.003 Inflammatory Bowel Diseases In meta-analyses, only the variant MTR A2756G indicated an association with the ... BeFree 20085490 Detail
0.146 Homocysteinemia Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-syn... BeFree 12476935 Detail
0.028 Malignant neoplasm of breast Methionine synthase A2756G polymorphism and breast cancer risk: a meta-analysis ... BeFree 20111902 Detail
<0.001 Adenocarcinoma Of Esophagus Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of... BeFree 17726616 Detail
0.003 epilepsy The purpose of the study was to determine the frequency of occurrence of polymor... BeFree 21543238 Detail
0.001 Cervical intraepithelial neoplasia grade 2 No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS... BeFree 23864153 Detail
0.008 myocardial infarction Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
0.136 lymphoma Methionine synthase genetic polymorphism MS A2756G alters susceptibility to foll... BeFree 12648076 Detail
0.136 lymphoma We have previously reported associations between lymphoma risk and germline poly... BeFree 15551285 Detail
0.005 breast carcinoma Data suggested an association between a nonsynonymous change in the gene coding ... BeFree 17311260 Detail
0.005 breast carcinoma Methionine synthase A2756G polymorphism and breast cancer risk: an up-to-date me... BeFree 23845785 Detail
0.006 multiple myeloma Methionine synthase genetic polymorphism MS A2756G alters susceptibility to foll... BeFree 12648076 Detail
0.007 squamous cell carcinoma The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate ... BeFree 16333305 Detail
0.010 Coronary heart disease Our results suggest that neither single mutation nor combined mutations in MTHFR... BeFree 11672761 Detail
0.006 multiple myeloma These results suggest that MTHFR C677T, A1298C, MTRR A66G, TS 2R--&gt;3R, and 6-... BeFree 17546637 Detail
0.028 Malignant neoplasm of breast Methionine synthase A2756G polymorphism and breast cancer risk: an up-to-date me... BeFree 23845785 Detail
<0.001 Cancer of Digestive System Lack of association between methionine synthase A2756G polymorphism and digestiv... BeFree 23613867 Detail
0.028 Malignant neoplasm of breast Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.010 Precursor Cell Lymphoblastic Leukemia Lymphoma [Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic... GAD 19020309 Detail
0.023 epilepsy The purpose of the study was to determine the frequency of occurrence of polymor... BeFree 21543238 Detail
0.003 Hyperlipidemia Further study is needed to confirm the role of HHcy and MS A2756G mutation in th... BeFree 19263808 Detail
0.004 Acute lymphocytic leukemia In order to determine the influence of polymorphism in thymidylate synthase (TS ... BeFree 21643952 Detail
0.003 breast carcinoma We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G pol... BeFree 19240236 Detail
0.028 Malignant neoplasm of breast Data suggested an association between a nonsynonymous change in the gene coding ... BeFree 17311260 Detail
<0.001 Ischemic Cerebrovascular Accident The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17... BeFree 11672761 Detail
0.002 Homocysteinemia Prevalence of myocardial infarction is related to hyperhomocysteinemia but not i... BeFree 15820491 Detail
0.002 Homocysteinemia Further study is needed to confirm the role of HHcy and MS A2756G mutation in th... BeFree 19263808 Detail
<0.001 Cervical intraepithelial neoplasia grade 2 The aim of the present meta-analysis was to determine the effects of two MTHFR (... BeFree 23864153 Detail
<0.001 Squamous cell carcinoma of esophagus No significant difference in MTR A2756G genotype distribution was observed betwe... BeFree 17726616 Detail
0.009 breast carcinoma We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G pol... BeFree 19240236 Detail
0.239 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.028 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
<0.001 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.153 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.003 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
0.005 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.007 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.128 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.135 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.010 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.040 Down syndrome The aim of the present study was to investigate the effect of polymorphisms C677... BeFree 18273817 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.005 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.035 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.239 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND Neural tube defects, folate-sensitive, susceptibility t... ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND not specified ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND Disorders of Intracellular Cobalamin Metabolism ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND Methylcobalamin deficiency type cblG ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND not provided ClinVar Detail
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND MTR-related disorder ClinVar Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0... DisGeNET Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0... DisGeNET Detail
To investigate the association between 3 major polymorphisms in genes encoding enzymes involved in r... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the rela... DisGeNET Detail
In contrast, the association of the substitutions A2756G of methionine synthase (MTR), A66G of methi... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
To test the hypothesis that polymorphic variation in the folate metabolism genes 5,10-methylenetetra... DisGeNET Detail
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the rela... DisGeNET Detail
Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such as methylenetetrahydr... DisGeNET Detail
We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we foun... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and MTHFR A1298C, is ass... DisGeNET Detail
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the rela... DisGeNET Detail
This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and MTHFR A1298C, is ass... DisGeNET Detail
To test the hypothesis that polymorphic variation in the folate metabolism genes 5,10-methylenetetra... DisGeNET Detail
We conducted a case-control study to assess the effect of alcohol on pancreatic cancer in conjunctio... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we foun... DisGeNET Detail
This meta-analysis demonstrated a suggestive result that the A66G variant in MTRR, but not the A2756... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
We conducted a case-control study to assess the effect of alcohol on pancreatic cancer in conjunctio... DisGeNET Detail
A total of 138 children diagnosed as autistic based on Diagnostic and Statistical Manual of Mental D... DisGeNET Detail
This meta-analysis demonstrated a suggestive result that the A66G variant in MTRR, but not the A2756... DisGeNET Detail
We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A... DisGeNET Detail
In a case-control study, we evaluated whether four common polymorphisms in methylenetetrahydrofolate... DisGeNET Detail
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the rela... DisGeNET Detail
None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we foun... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the rela... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and MTHFR A1298C, is ass... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
The rationale behind this study was to examine the relationship between polymorphisms in genes that ... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
The results of combined analyses of the MTR A2756G polymorphism suggested that the G allele was asso... DisGeNET Detail
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillati... DisGeNET Detail
Our results suggest that the effects of MTHFR C677T and MS A2756G gene polymorphisms may have pivota... DisGeNET Detail
Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk. DisGeNET Detail
To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein ... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
In meta-analyses, only the variant MTR A2756G indicated an association with the risk of IBD for the ... DisGeNET Detail
We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the development of prostati... DisGeNET Detail
The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated wi... DisGeNET Detail
We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases... DisGeNET Detail
Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyp... DisGeNET Detail
However, limited association is suggested between MTHFR A1298C and MS A2756G polymorphisms with cerv... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17 (95% CI 0.58-2.37) ... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillati... DisGeNET Detail
No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS A2756G polymorphism... DisGeNET Detail
These findings indicate that locus A2756G in the MTR gene may play a role in susceptibility to CA of... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein ... DisGeNET Detail
In the present study, we have investigated the frequency of the MTHFR C677T, CBS 844ins68, and MS A2... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of MTR A2756G and CBS ... DisGeNET Detail
Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a ... DisGeNET Detail
However, limited association is suggested between MTHFR A1298C and MS A2756G polymorphisms with cerv... DisGeNET Detail
The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated wi... DisGeNET Detail
We analyzed CpG island hypermethylation in 15 genes (APC, CDH1, COX2, DAPK, FHIT, GSTP1, HLTF1, hMLH... DisGeNET Detail
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in B... DisGeNET Detail
Methionine synthase A2756G polymorphism and breast cancer risk: a meta-analysis involving 18,953 sub... DisGeNET Detail
Association between MTR A2756G polymorphism and childhood acute lymphoblastic leukemia: a meta-analy... DisGeNET Detail
The aim of this work was to evaluate, in a case-control study, whether the common polymorphisms in 5... DisGeNET Detail
The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate r... DisGeNET Detail
Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the development of prostati... DisGeNET Detail
Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
By analysis of a large number of subjects and a more specific patient selection, we showed the first... DisGeNET Detail
In Xinjiang Uygur subjects, the A1298C polymorphisms in MTHFR and the A2756G polymorphisms in the MS... DisGeNET Detail
The methionine synthase polymorphism D919G alters susceptibility to primary central nervous system l... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein ... DisGeNET Detail
Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C... DisGeNET Detail
Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate... DisGeNET Detail
In order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and me... DisGeNET Detail
Finally, folate fortification unveiled cobalamin deficiency in some patients, associated with the me... DisGeNET Detail
Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of MTR A2756G and CBS ... DisGeNET Detail
To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein ... DisGeNET Detail
To investigate the distribution of the A2756G polymorphism of the methionine synthase reductase (MTR... DisGeNET Detail
Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate... DisGeNET Detail
No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk ... DisGeNET Detail
Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a ... DisGeNET Detail
Methionine synthase A2756G polymorphism interacts with alcohol and folate intake to influence the ri... DisGeNET Detail
No significant difference in MTR A2756G genotype distribution was observed between controls (A/A 66.... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
MTR A2756G was associated with the development, but not progression, of IgA nephropathy. DisGeNET Detail
The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate r... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68... DisGeNET Detail
A2756G-MS may protect against a thromboembolic event. DisGeNET Detail
In order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and me... DisGeNET Detail
The A2756G polymorphism in the MS gene could be an independent risk factor for MCI in the Xinjiang U... DisGeNET Detail
MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. DisGeNET Detail
The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated wi... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Methionine synthase A2756G polymorphism and risk of colorectal adenoma and cancer: evidence based on... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk... DisGeNET Detail
In order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and me... DisGeNET Detail
The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated wi... DisGeNET Detail
No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS A2756G polymorphism... DisGeNET Detail
Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68... DisGeNET Detail
Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a ... DisGeNET Detail
Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a ... DisGeNET Detail
Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and... DisGeNET Detail
No significant association was found between MTHFR A1298C and MTR A2756G polymorphisms and the risk ... DisGeNET Detail
By analysis of a large number of subjects and a more specific patient selection, we showed the first... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with dec... DisGeNET Detail
In meta-analyses, only the variant MTR A2756G indicated an association with the risk of IBD for the ... DisGeNET Detail
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and m... DisGeNET Detail
Methionine synthase A2756G polymorphism and breast cancer risk: a meta-analysis involving 18,953 sub... DisGeNET Detail
Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of MTR A2756G and CBS ... DisGeNET Detail
The purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHF... DisGeNET Detail
No effects of MTHFR C677T polymorphism on CIN II/III risk and MTHFR A1298C or MS A2756G polymorphism... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffu... DisGeNET Detail
We have previously reported associations between lymphoma risk and germline polymorphisms in genes o... DisGeNET Detail
Data suggested an association between a nonsynonymous change in the gene coding for methionine synth... DisGeNET Detail
Methionine synthase A2756G polymorphism and breast cancer risk: an up-to-date meta-analysis. DisGeNET Detail
Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffu... DisGeNET Detail
The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Met... DisGeNET Detail
Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68... DisGeNET Detail
These results suggest that MTHFR C677T, A1298C, MTRR A66G, TS 2R--&gt;3R, and 6-bp deletion/insertio... DisGeNET Detail
Methionine synthase A2756G polymorphism and breast cancer risk: an up-to-date meta-analysis. DisGeNET Detail
Lack of association between methionine synthase A2756G polymorphism and digestive system cancer risk... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.] DisGeNET Detail
The purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHF... DisGeNET Detail
Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyp... DisGeNET Detail
In order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and me... DisGeNET Detail
We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases... DisGeNET Detail
Data suggested an association between a nonsynonymous change in the gene coding for methionine synth... DisGeNET Detail
The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17 (95% CI 0.58-2.37) ... DisGeNET Detail
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T m... DisGeNET Detail
Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyp... DisGeNET Detail
The aim of the present meta-analysis was to determine the effects of two MTHFR (C677T and A1298C) an... DisGeNET Detail
No significant difference in MTR A2756G genotype distribution was observed between controls (A/A 66.... DisGeNET Detail
We evaluated case-control association of MTHFR C677T, A1298C, and MTR A2756G polymorphisms for cases... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the ... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1805087 dbSNP
Genome
hg38
Position
chr1:236,885,200-236,885,200
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1079
Mean of sample read depth (HGVD)
29.16
Standard deviation of sample read depth (HGVD)
14.85
Number of reference allele (HGVD)
1809
Number of alternative allele (HGVD)
348
Allele Frequency (HGVD)
0.16133518776077885
Gene Symbol (HGVD)
MTR
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1805087
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1916
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3212
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
977
East Asian Heterozygous Counts (ExAC)
849
East Asian Homozygous Counts (ExAC)
64
East Asian Allele Frequency (ExAC)
0.11320973348783314
Chromosome Counts in All Race (ExAC)
121046
Allele Counts in All Race (ExAC)
25308
Heterozygous Counts in All Race (ExAC)
19474
Homozygous Counts in All Race (ExAC)
2917
Allele Frequency in All Race (ExAC)
0.20907754076962476
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