chr1:11856378:G>A Detail (hg19) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,856,378-11,856,378
hg38 chr1:11,796,321-11,796,321 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.665C>T NP_005948.3:p.Ala222Val
Ensemble ENST00000376585.6:c.788C>T ENST00000376585.6:p.Ala263Val
ENST00000376583.7:c.788C>T ENST00000376583.7:p.Ala263Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.404
ToMMo:0.392
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.305

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv380601 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-09-29 no assertion criteria provided MTHFR THERMOLABILE POLYMORPHISM germline Detail
Uncertain significance no assertion criteria provided gastrointestinal stromal tumor germline Detail
Uncertain significance; other 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2019-05-28 criteria provided, single submitter Neural tube defects, folate-sensitive unknown Detail
not provided 2016-03-10 no assertion provided Neoplasm of stomach somatic Detail
Benign 2016-04-25 criteria provided, single submitter not specified unknown germline Detail
Uncertain significance 2017-12-30 no assertion criteria provided thrombophilia due to thrombin defect unknown Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Homocystinuria due to methylene tetrahydrofolate reductase deficiency germline unknown Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Uncertain significance 2022-01-06 criteria provided, single submitter Stroke disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
pancreatic cancer B Prognostic Supports Better Outcome Rare Germline 4 27819322 Detail
rectum cancer Fluorouracil B Predictive Supports Sensitivity/Response Common Germline 4 26693073 Detail
stomach cancer Fluorouracil B Predictive Supports Sensitivity/Response Rare Germline 3 18704422 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.333 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.013 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.012 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.012 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.115 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.333 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.001 vascular disease occlusive All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.337 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.122 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
<0.001 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.013 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
0.146 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.003 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
<0.001 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
0.107 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.011 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.004 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.005 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
<0.001 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.026 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.190 Alzheimer's disease In this case-control study, we examined C677T and A1298C (rs1801133 and rs180113... BeFree 22015309 Detail
0.021 breast carcinoma Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms ... BeFree 24945727 Detail
0.003 Carcinoma of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.002 Mental disorders Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), w... BeFree 21819229 Detail
0.120 Gastrointestinal Stromal Tumors NA CLINVAR Detail
0.019 Factor V Leiden mutation SNP in these genes showed association with venous thrombosis risk in whites: MTH... BeFree 22707612 Detail
0.120 Mthfr Deficiency, Thermolabile Type NA CLINVAR Detail
0.022 Malignant neoplasm of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.101 Malignant neoplasm of breast Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms ... BeFree 24945727 Detail
0.135 coronary artery disease The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery dis... BeFree 22440940 Detail
<0.001 Recurrent tumor Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serv... BeFree 24980946 Detail
0.003 cervix carcinoma Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
<0.001 intestinal perforation The combination of the selectin E (SELE) rs3917412 G&gt;A G/G and the methylente... BeFree 24980946 Detail
0.001 endometriosis However, the exhaustive multifactor dimensionality reduction analysis revealed a... BeFree 21429654 Detail
0.094 Diabetes Mellitus, Non-Insulin-Dependent The variant MTHFR-rs1801133 was the top signal for association with type 2 diabe... BeFree 21960995 Detail
0.004 aortic aneurysm For SNPs that had previously been associated with AAA presence, meta-analysis of... BeFree 24613192 Detail
0.036 Malignant neoplasm of stomach After shrinkage and adjusting for potential confounding factors, we found positi... BeFree 25337902 Detail
0.046 Coronary Arteriosclerosis The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery dis... BeFree 22440940 Detail
<0.001 Cluster Headache An association between the 677C&gt;T polymorphism (rs1801133) in the methylenete... BeFree 20946434 Detail
0.003 Cleft lip with or without cleft palate rs1801133C&gt;T polymorphism in MTHFR is a risk factor for nonsyndromic cleft li... BeFree 25808365 Detail
0.054 Migraine Disorders By multivariate logistic stepwise regression analysis, type of migraine, regular... BeFree 22290307 Detail
0.107 colorectal cancer The 677C&gt;T (rs1801133) polymorphism in the MTHFR gene contributes to colorect... BeFree 23437053 Detail
0.004 ovarian carcinoma Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.015 Migraine Disorders By multivariate logistic stepwise regression analysis, type of migraine, regular... BeFree 22290307 Detail
0.006 celiac disease Recently, a possible excess in the frequency of the MTHFR c.677C&gt;T (rs1801133... BeFree 21688148 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
0.032 Malignant neoplasm of urinary bladder Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer ... BeFree 23649653 Detail
0.001 Malignant tumor of cervix Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.030 Parkinson disease Association of the rs1801133 variant in the MTHFR gene and sporadic Parkinson's ... BeFree 25909872 Detail
0.082 Factor V Leiden mutation SNP in the following genes demonstrated association with thrombosis risk overall... BeFree 22707612 Detail
0.101 Malignant neoplasm of breast Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer suscep... BeFree 23217001 Detail
0.005 major depressive disorder Low folate intake in the presence of the functional MTHFR 677 C &gt; T (rs180113... BeFree 24532086 Detail
<0.001 macular degeneration In contrast, there were significant differences in the genotype distribution bet... BeFree 22065928 Detail
0.021 breast carcinoma Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer suscep... BeFree 23217001 Detail
0.004 Carcinoma of bladder Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer ... BeFree 23649653 Detail
0.094 thrombosis [The results demonstrated that Sao Miguel islanders have increased genetic predi... GAD 19538716 Detail
0.006 age related macular degeneration In contrast, there were significant differences in the genotype distribution bet... BeFree 22065928 Detail
0.015 Ischemic Cerebrovascular Accident In addition, MTHFR rs1801133 also was associated with cerebral hemorrhage (OR = ... BeFree 25144711 Detail
0.003 Impaired cognition The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methyl... BeFree 23353103 Detail
0.003 Impaired cognition The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methyl... BeFree 23353103 Detail
0.069 myocardial infarction The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the asso... BeFree 22440940 Detail
0.245 Cardiovascular Diseases Genetic variation in folate-mediated one-carbon metabolism, other than the well-... BeFree 22103680 Detail
0.141 bipolar disorder We were unable to confirm an association between bipolar disorder and C677T poly... BeFree 24577139 Detail
0.002 Lead Poisoning [The maternal MTHFR 677T allele is an independent predictor of poorer child neur... GAD 20504979 Detail
0.011 obesity We compared the genotype distribution of five genetic Single Nucleotide Polymorp... BeFree 25612568 Detail
0.008 Heart Diseases The polymorphism 677C&gt;T (NM_005957.4:c.665C&gt;T/p.Ala222Val, rs1801133:C&gt;... BeFree 24616178 Detail
<0.001 psoriasis Methylentetrahydrofolatereductase (rs1801133) polymorphism and psoriasis: contri... BeFree 24118377 Detail
0.239 Coronary heart disease The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery dis... BeFree 22440940 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma After shrinkage and adjusting for potential confounding factors, we found positi... BeFree 25337902 Detail
0.003 Malignant neoplasm of ovary Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.026 colorectal carcinoma The 677C&gt;T (rs1801133) polymorphism in the MTHFR gene contributes to colorect... BeFree 23437053 Detail
0.010 cervix carcinoma Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.003 Malignant neoplasm of liver After shrinkage and adjusting for potential confounding factors, we found positi... BeFree 25337902 Detail
0.219 schizophrenia To gain insight into the neural and molecular mechanisms of error processing, we... BeFree 21980405 Detail
0.010 Blood Coagulation Disorders Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation... BeFree 9409277 Detail
0.002 aortic aneurysm For SNPs that had previously been associated with AAA presence, meta-analysis of... BeFree 24613192 Detail
0.029 Ischemic stroke In addition, MTHFR rs1801133 also was associated with cerebral hemorrhage (OR = ... BeFree 25144711 Detail
0.054 Migraine Disorders Lastly, there may be a relationship between the MTHFR variant (SNP rs1801133) an... BeFree 21702266 Detail
0.003 Unipolar Depression Low folate intake in the presence of the functional MTHFR 677 C &gt; T (rs180113... BeFree 24532086 Detail
0.022 osteoporosis The C677T (rs1801133) polymorphism of MTHFR (methylenetetrahydrofolate reductase... BeFree 17712717 Detail
0.013 stomach carcinoma After shrinkage and adjusting for potential confounding factors, we found positi... BeFree 25337902 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.003 nephroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.001 attention deficit hyperactivity disorder We hypothesized that ADHD related cognitive deficit could be attributed to abnor... BeFree 25079255 Detail
<0.001 neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.020 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.010 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.008 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.005 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
<0.001 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
<0.001 Drug habituation According to this practical and scientific demand, we aimed to investigate the r... BeFree 20421849 Detail
0.287 Alzheimer's disease In this case-control study, we aimed to investigate whether single nucleotide po... BeFree 25359311 Detail
<0.001 liver carcinoma Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTH... BeFree 25318605 Detail
<0.001 liver carcinoma Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTH... BeFree 25318605 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
Study of 1817 PCa cases and 2026 cancer free controls to clarify the association of (MTHFR)c.677C>T ... CIViC Evidence Detail
Patients with the wild type (C/C) MTHFR gene are 2.91 times (95% CI: [1.23, 6.89]) more likely to ha... CIViC Evidence Detail
The MTHFR C667T variant was associated with significantly lower relapse-free survival and overall su... CIViC Evidence Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND MTHFR THERMOLABILE POLYMORPHISM ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Gastrointestinal stromal tumor ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND not provided ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Neural tube defects, folate-sensitive ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Neoplasm of stomach ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND not specified ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Thrombophilia due to thrombin defect ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Homocystinuria due to methylene tetrahydrofolate reduc... ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND methotrexate response - Toxicity ClinVar Detail
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Stroke disorder ClinVar Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
In this case-control study, we examined C677T and A1298C (rs1801133 and rs1801131) polymorphism in t... DisGeNET Detail
Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms in the MTHFR gene an... DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), were analyzed in a sa... DisGeNET Detail
NA DisGeNET Detail
SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.5... DisGeNET Detail
NA DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms in the MTHFR gene an... DisGeNET Detail
The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery disease. DisGeNET Detail
Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serve as pharmacogenetic... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
The combination of the selectin E (SELE) rs3917412 G&gt;A G/G and the methylentetrahydrofolate reduc... DisGeNET Detail
However, the exhaustive multifactor dimensionality reduction analysis revealed an epistatic interact... DisGeNET Detail
The variant MTHFR-rs1801133 was the top signal for association with type 2 diabetes (OR = 0.78 (95% ... DisGeNET Detail
For SNPs that had previously been associated with AAA presence, meta-analysis of currently available... DisGeNET Detail
After shrinkage and adjusting for potential confounding factors, we found positive associations betw... DisGeNET Detail
The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery disease. DisGeNET Detail
An association between the 677C&gt;T polymorphism (rs1801133) in the methylenetetrahydrofolate reduc... DisGeNET Detail
rs1801133C&gt;T polymorphism in MTHFR is a risk factor for nonsyndromic cleft lip with or without cl... DisGeNET Detail
By multivariate logistic stepwise regression analysis, type of migraine, regular and sufficient diet... DisGeNET Detail
The 677C&gt;T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a me... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
By multivariate logistic stepwise regression analysis, type of migraine, regular and sufficient diet... DisGeNET Detail
Recently, a possible excess in the frequency of the MTHFR c.677C&gt;T (rs1801133) gene variant in CD... 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
Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer susceptibility: a sy... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
Association of the rs1801133 variant in the MTHFR gene and sporadic Parkinson's disease. DisGeNET Detail
SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or... DisGeNET Detail
Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update ... DisGeNET Detail
Low folate intake in the presence of the functional MTHFR 677 C &gt; T (rs1801133) polymorphism is a... DisGeNET Detail
In contrast, there were significant differences in the genotype distribution between the controls an... DisGeNET Detail
Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update ... DisGeNET Detail
Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer susceptibility: a sy... DisGeNET Detail
[The results demonstrated that Sao Miguel islanders have increased genetic predisposition to thrombo... DisGeNET Detail
In contrast, there were significant differences in the genotype distribution between the controls an... DisGeNET Detail
In addition, MTHFR rs1801133 also was associated with cerebral hemorrhage (OR = 1.48; 95%CI, 1.16 to... DisGeNET Detail
The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate ... DisGeNET Detail
The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate ... DisGeNET Detail
The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year ... DisGeNET Detail
Genetic variation in folate-mediated one-carbon metabolism, other than the well-known effects of the... DisGeNET Detail
We were unable to confirm an association between bipolar disorder and C677T polymorphism (rs1801133)... DisGeNET Detail
[The maternal MTHFR 677T allele is an independent predictor of poorer child neurodevelopment at 24 m... DisGeNET Detail
We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known t... DisGeNET Detail
The polymorphism 677C&gt;T (NM_005957.4:c.665C&gt;T/p.Ala222Val, rs1801133:C&gt;T) in methylenetetra... DisGeNET Detail
Methylentetrahydrofolatereductase (rs1801133) polymorphism and psoriasis: contribution to oxidative ... DisGeNET Detail
The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery disease. DisGeNET Detail
After shrinkage and adjusting for potential confounding factors, we found positive associations betw... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
The 677C&gt;T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a me... DisGeNET Detail
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
After shrinkage and adjusting for potential confounding factors, we found positive associations betw... DisGeNET Detail
To gain insight into the neural and molecular mechanisms of error processing, we used functional MRI... DisGeNET Detail
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) i... DisGeNET Detail
For SNPs that had previously been associated with AAA presence, meta-analysis of currently available... DisGeNET Detail
In addition, MTHFR rs1801133 also was associated with cerebral hemorrhage (OR = 1.48; 95%CI, 1.16 to... DisGeNET Detail
Lastly, there may be a relationship between the MTHFR variant (SNP rs1801133) and migraine in this p... DisGeNET Detail
Low folate intake in the presence of the functional MTHFR 677 C &gt; T (rs1801133) polymorphism is a... DisGeNET Detail
The C677T (rs1801133) polymorphism of MTHFR (methylenetetrahydrofolate reductase) has been associate... DisGeNET Detail
After shrinkage and adjusting for potential confounding factors, we found positive associations betw... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the fola... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
According to this practical and scientific demand, we aimed to investigate the relationship between ... DisGeNET Detail
In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in MTHFR... DisGeNET Detail
Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTHFD rs1127717, GART r... DisGeNET Detail
Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTHFD rs1127717, GART r... 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
rs1801133 dbSNP
Genome
hg19
Position
chr1:11,856,378-11,856,378
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
140.14
Standard deviation of sample read depth (HGVD)
74.45
Number of reference allele (HGVD)
1442
Number of alternative allele (HGVD)
976
Allele Frequency (HGVD)
0.40363937138130684
Gene Symbol (HGVD)
MTHFR
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))
rs1801133
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.392
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6570
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
2640
East Asian Heterozygous Counts (ExAC)
1758
East Asian Homozygous Counts (ExAC)
441
East Asian Allele Frequency (ExAC)
0.30520231213872834
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
36864
Heterozygous Counts in All Race (ExAC)
23616
Homozygous Counts in All Race (ExAC)
6624
Allele Frequency in All Race (ExAC)
0.3036673366503015
Variant (CIViC) (CIViC Variant)
A222V
Transcript 1 (CIViC Variant)
ENST00000376592.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/258
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