chr5:7870860:A>G Detail (hg38) (MTRR)

Information

Genome

Assembly Position
hg19 chr5:7,870,973-7,870,973 View the variant detail on this assembly version.
hg38 chr5:7,870,860-7,870,860

HGVS

Type Transcript Protein
RefSeq NM_002454.2:c.147A>G NP_002445.2:p.Ile49Met
NM_024010.2:c.147A>G NP_076915.2:p.Ile49Met
NR_134480.1:c.147A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.296
ToMMo:0.304
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.281

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602568 OMIM
HGNC 7473 HGNC
Ensembl ENSG00000124275 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20177836 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-07-01 no assertion criteria provided Neural tube defects, folate-sensitive, susceptibility to germline Detail
risk factor 2005-07-01 no assertion criteria provided Down syndrome, susceptibility to germline Detail
Benign 2013-08-26 criteria provided, multiple submitters, no conflicts 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 cblE germline Detail
drug response 2023-04-16 no assertion criteria provided 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
0.010 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 breast carcinoma Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and... BeFree 18842997 Detail
0.016 congenital heart defects A66G and C524T polymorphisms of the methionine synthase reductase gene are assoc... BeFree 22057956 Detail
0.017 Malignant neoplasm of breast Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and... BeFree 18842997 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 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
0.003 schizophrenia Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susc... BeFree 22813657 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
0.002 colorectal carcinoma Study results do not demonstrate an association between A66G MTRR polymorphism a... BeFree 20726305 Detail
0.003 autistic disorder MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms re... BeFree 19440165 Detail
<0.001 Migraine Disorders Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce mig... BeFree 22926161 Detail
0.001 colorectal cancer This population-based case-control study was designed to investigate the interre... BeFree 12020105 Detail
<0.001 Malignant neoplasm of liver In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.057 Malignant neoplasm of lung In addition, we found interactions between the MTRR A66G polymorphism and smokin... BeFree 17468511 Detail
<0.001 Metabolic syndrome X Associations of MTHFR C677T and MTRR A66G gene polymorphisms with metabolic synd... BeFree 25429430 Detail
0.003 azoospermia The polymorphic distributions of the four SNPs (MTHFR C677T and A1298C, MTR A275... BeFree 25578539 Detail
0.153 Down syndrome Recent studies have linked the increased frequency of polymorphism of methylenet... BeFree 12626825 Detail
0.004 Squamous cell carcinoma of esophagus Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence t... BeFree 14652285 Detail
<0.001 Giant Cell Arteritis Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence t... BeFree 14652285 Detail
0.003 Malignant neoplasm of stomach In addition, we detected potential heterogeneity across alcohol drinking status ... BeFree 25337902 Detail
0.011 Malignant neoplasm of lung Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methyl... BeFree 17468511 Detail
0.148 male infertility We found no evidence for an association between any of these variants (MTHFR C67... BeFree 25578539 Detail
0.001 Carcinoma of lung Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methyl... BeFree 17468511 Detail
0.003 Down syndrome In conclusion, our meta-analysis suggested that the MTRR c.66A&gt;G (rs1801394) ... BeFree 25544792 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
0.003 obesity Further investigations are necessary to confirm the possible association between... BeFree 20883119 Detail
<0.001 Mental Depression The major finding from this study is that the MTRR A66G genotype predicts respon... BeFree 23280573 Detail
0.010 coronary artery disease In contrast, the association of the substitutions A2756G of methionine synthase ... BeFree 16268464 Detail
0.040 Down syndrome In conclusion, our meta-analysis suggested that the MTRR c.66A&gt;G (rs1801394) ... BeFree 25544792 Detail
0.040 Down syndrome Finally, statistically significant associations between the MTHFR A1298C and MTR... BeFree 17934692 Detail
0.239 Down syndrome Finally, statistically significant associations between the MTHFR A1298C and MTR... BeFree 17934692 Detail
<0.001 Acute lymphocytic leukemia This meta-analysis suggests that MTRR A66G GG is associated with decreased risk ... BeFree 24261678 Detail
0.010 Coronary heart disease Influence of methionine synthase (A2756G) and methionine synthase reductase (A66... BeFree 16485733 Detail
0.036 colorectal cancer A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. BeFree 26214647 Detail
0.008 leukemia Methionine synthase reductase A66G polymorphism and leukemia risk: evidence from... BeFree 24261678 Detail
0.007 Coronary heart disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.004 colon carcinoma However, statistically significant interactions modifying CC risk were observed ... BeFree 22961839 Detail
0.010 Malignant neoplasm of prostate Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
<0.001 depressive disorder The major finding from this study is that the MTRR A66G genotype predicts respon... BeFree 23280573 Detail
0.003 leukemia The MTRR A66G (rs1801394) polymorphism is found to be associated with decreased ... BeFree 24261678 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 Squamous cell carcinoma of esophagus Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence t... BeFree 14652285 Detail
<0.001 Pregnancy Complications This study aimed to detect the genotype distributions and allele frequencies of ... BeFree 25634728 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
0.036 colorectal cancer Study results do not demonstrate an association between A66G MTRR polymorphism a... BeFree 20726305 Detail
0.003 ulcerative colitis The variant allele and genotypic frequencies in MTHFR A1298C, MTR A2756G and MTR... BeFree 21947961 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
0.016 Metabolic syndrome X Associations of MTHFR C677T and MTRR A66G gene polymorphisms with metabolic synd... BeFree 25429430 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
0.017 Malignant neoplasm of breast MTRR A66G polymorphism and breast cancer risk: a meta-analysis. BeFree 20411324 Detail
0.002 colorectal carcinoma A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. BeFree 26214647 Detail
0.017 Malignant neoplasm of breast MTRR A66G and cSHMT C1420T polymorphisms influence CIMP phenotype of BNIP3, thus... BeFree 21987236 Detail
<0.001 Malignant tumor of cervix The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD... BeFree 21349258 Detail
0.006 Coronary Arteriosclerosis We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.003 Malignant tumor of colon However, statistically significant interactions modifying CC risk were observed ... BeFree 22961839 Detail
0.032 Pregnancy Complications This study aimed to detect the genotype distributions and allele frequencies of ... BeFree 25634728 Detail
0.026 colorectal carcinoma This population-based case-control study was designed to investigate the interre... BeFree 12020105 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
0.003 breast carcinoma MTRR A66G polymorphism and breast cancer risk: a meta-analysis. BeFree 20411324 Detail
0.011 Malignant neoplasm of lung In addition, we found interactions between the MTRR A66G polymorphism and smokin... BeFree 17468511 Detail
0.130 Precursor Cell Lymphoblastic Leukemia Lymphoma [Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic... GAD 19020309 Detail
0.054 Migraine Disorders Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce mig... BeFree 22926161 Detail
0.219 schizophrenia Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susc... BeFree 22813657 Detail
0.007 Coronary heart disease This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and ... BeFree 21780915 Detail
0.003 breast carcinoma MTRR A66G and cSHMT C1420T polymorphisms influence CIMP phenotype of BNIP3, thus... BeFree 21987236 Detail
<0.001 Brain Tumor, Primary To test the hypothesis that polymorphic variation in the folate metabolism genes... BeFree 18483342 Detail
<0.001 colorectal carcinoma This population-based case-control study was designed to investigate the interre... BeFree 12020105 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 colon carcinoma However, statistically significant interactions modifying CC risk were observed ... BeFree 22961839 Detail
0.036 colorectal cancer This population-based case-control study was designed to investigate the interre... BeFree 12020105 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
0.002 colorectal carcinoma This population-based case-control study was designed to investigate the interre... BeFree 12020105 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
<0.001 Deep Vein Thrombosis In this study, we determined total plasma homocysteine levels and MTRR A66G poly... BeFree 19348062 Detail
0.120 Gastrointestinal Stromal Tumors NA CLINVAR Detail
0.004 prostate carcinoma Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) gen... BeFree 23459165 Detail
0.016 Malignant neoplasm of lung Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methyl... BeFree 17468511 Detail
0.013 colorectal cancer This population-based case-control study was designed to investigate the interre... BeFree 12020105 Detail
<0.001 Deep vein thrombosis of lower limb In this study, we determined total plasma homocysteine levels and MTRR A66G poly... BeFree 19348062 Detail
0.003 pancreatic carcinoma We conducted a case-control study to assess the effect of alcohol on pancreatic ... BeFree 18843018 Detail
0.001 Carcinoma of lung In addition, we found interactions between the MTRR A66G polymorphism and smokin... BeFree 17468511 Detail
0.003 cervix carcinoma The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD... BeFree 21349258 Detail
0.130 Precursor Cell Lymphoblastic Leukemia Lymphoma This meta-analysis suggests that MTRR A66G GG is associated with decreased risk ... BeFree 24261678 Detail
<0.001 Giant Cell Arteritis Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence t... BeFree 14652285 Detail
0.003 Vascular Diseases Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma ... BeFree 19348062 Detail
0.003 autistic disorder A total of 138 children diagnosed as autistic based on Diagnostic and Statistica... BeFree 19440165 Detail
0.003 autistic disorder MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms re... 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
0.007 Coronary heart disease In summary, the metaanalysis demonstrated that MTRR A66G polymorphism is a risk ... BeFree 24913415 Detail
<0.001 Carcinogenesis The aim of this study was to evaluate if A66G MTRR (rs1801394) polymorphism is i... BeFree 20726305 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 colorectal carcinoma This population-based case-control study was designed to investigate the interre... BeFree 12020105 Detail
0.004 Carcinoma of lung Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methyl... BeFree 17468511 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
0.016 congenital heart defects Association between methionine synthase reductase A66G polymorphism and the risk... BeFree 24913415 Detail
0.135 coronary artery disease We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes... BeFree 15612980 Detail
0.107 colorectal cancer This population-based case-control study was designed to investigate the interre... BeFree 12020105 Detail
0.007 Carcinoma of lung In addition, we found interactions between the MTRR A66G polymorphism and smokin... BeFree 17468511 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
<0.001 Malignant tumor of colon However, statistically significant interactions modifying CC risk were observed ... BeFree 22961839 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
Annotation

Annotations

DescrptionSourceLinks
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Neural tube defects, folate-sensitive, susceptibility to ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Down syndrome, susceptibility to ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND not specified ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Gastrointestinal stromal tumor ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Disorders of Intracellular Cobalamin Metabolism ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Methylcobalamin deficiency type cblE ClinVar Detail
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Methotrexate response 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
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
Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A... DisGeNET Detail
A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenita... DisGeNET Detail
Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... 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
Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizo... 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
Study results do not demonstrate an association between A66G MTRR polymorphism and CRC or BC in Roma... DisGeNET Detail
MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism... DisGeNET Detail
Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce migraine disability in ... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
In addition, we found interactions between the MTRR A66G polymorphism and smoking (P = 0.015) and th... DisGeNET Detail
Associations of MTHFR C677T and MTRR A66G gene polymorphisms with metabolic syndrome: a case-control... DisGeNET Detail
The polymorphic distributions of the four SNPs (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) we... DisGeNET Detail
Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate redu... DisGeNET Detail
Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and ... DisGeNET Detail
Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and ... DisGeNET Detail
In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTR... DisGeNET Detail
Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methylenetetrahydrofolate ... DisGeNET Detail
We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A... DisGeNET Detail
Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methylenetetrahydrofolate ... DisGeNET Detail
In conclusion, our meta-analysis suggested that the MTRR c.66A&gt;G (rs1801394) polymorphism and MTH... 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
Further investigations are necessary to confirm the possible association between the rs1801394 varia... DisGeNET Detail
The major finding from this study is that the MTRR A66G genotype predicts response to selective sero... DisGeNET Detail
In contrast, the association of the substitutions A2756G of methionine synthase (MTR), A66G of methi... DisGeNET Detail
In conclusion, our meta-analysis suggested that the MTRR c.66A&gt;G (rs1801394) polymorphism and MTH... DisGeNET Detail
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorp... DisGeNET Detail
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorp... DisGeNET Detail
This meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Cau... DisGeNET Detail
Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on ... DisGeNET Detail
A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. DisGeNET Detail
Methionine synthase reductase A66G polymorphism and leukemia risk: evidence from published studies. DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with... DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
The major finding from this study is that the MTRR A66G genotype predicts response to selective sero... DisGeNET Detail
The MTRR A66G (rs1801394) polymorphism is found to be associated with decreased enzyme affinity for ... 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
Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and ... DisGeNET Detail
This study aimed to detect the genotype distributions and allele frequencies of methylenetetrahydrof... 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
Study results do not demonstrate an association between A66G MTRR polymorphism and CRC or BC in Roma... DisGeNET Detail
The variant allele and genotypic frequencies in MTHFR A1298C, MTR A2756G and MTRR A66G genes were si... 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
Associations of MTHFR C677T and MTRR A66G gene polymorphisms with metabolic syndrome: a case-control... 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
MTRR A66G polymorphism and breast cancer risk: a meta-analysis. DisGeNET Detail
A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. DisGeNET Detail
MTRR A66G and cSHMT C1420T polymorphisms influence CIMP phenotype of BNIP3, thus epigenetically regu... DisGeNET Detail
The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD1 Arg653Gln and MTRR... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with... DisGeNET Detail
This study aimed to detect the genotype distributions and allele frequencies of methylenetetrahydrof... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... 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
MTRR A66G polymorphism and breast cancer risk: a meta-analysis. DisGeNET Detail
In addition, we found interactions between the MTRR A66G polymorphism and smoking (P = 0.015) and th... DisGeNET Detail
[Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.] DisGeNET Detail
Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce migraine disability in ... DisGeNET Detail
Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizo... DisGeNET Detail
This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and MTHFR A1298C, is ass... DisGeNET Detail
MTRR A66G and cSHMT C1420T polymorphisms influence CIMP phenotype of BNIP3, thus epigenetically regu... DisGeNET Detail
To test the hypothesis that polymorphic variation in the folate metabolism genes 5,10-methylenetetra... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... DisGeNET Detail
We conducted a case-control study to assess the effect of alcohol on pancreatic cancer in conjunctio... DisGeNET Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... 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 population-based case-control study was designed to investigate the interrelationships between ... 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
In this study, we determined total plasma homocysteine levels and MTRR A66G polymorphism in 114 pati... DisGeNET Detail
NA DisGeNET Detail
Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with p... DisGeNET Detail
Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methylenetetrahydrofolate ... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... DisGeNET Detail
In this study, we determined total plasma homocysteine levels and MTRR A66G polymorphism in 114 pati... DisGeNET Detail
We conducted a case-control study to assess the effect of alcohol on pancreatic cancer in conjunctio... DisGeNET Detail
In addition, we found interactions between the MTRR A66G polymorphism and smoking (P = 0.015) and th... DisGeNET Detail
The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD1 Arg653Gln and MTRR... DisGeNET Detail
This meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Cau... DisGeNET Detail
Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and ... DisGeNET Detail
Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma homocysteine concent... DisGeNET Detail
A total of 138 children diagnosed as autistic based on Diagnostic and Statistical Manual of Mental D... DisGeNET Detail
MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism... 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
In summary, the metaanalysis demonstrated that MTRR A66G polymorphism is a risk factor for CHDs. DisGeNET Detail
The aim of this study was to evaluate if A66G MTRR (rs1801394) polymorphism is involved in predispos... 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 population-based case-control study was designed to investigate the interrelationships between ... DisGeNET Detail
Functional polymorphisms in genes encoding one-carbon metabolism enzymes, methylenetetrahydrofolate ... 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
Association between methionine synthase reductase A66G polymorphism and the risk of congenital heart... DisGeNET Detail
We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydr... DisGeNET Detail
This population-based case-control study was designed to investigate the interrelationships between ... DisGeNET Detail
In addition, we found interactions between the MTRR A66G polymorphism and smoking (P = 0.015) and th... 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
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with... 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

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
rs1801394 dbSNP
Genome
hg38
Position
chr5:7,870,860-7,870,860
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
52.15
Standard deviation of sample read depth (HGVD)
27.01
Number of reference allele (HGVD)
1702
Number of alternative allele (HGVD)
716
Allele Frequency (HGVD)
0.2961124896608768
Gene Symbol (HGVD)
MTRR
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))
rs1801394
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3043
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5100
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
2425
East Asian Heterozygous Counts (ExAC)
1749
East Asian Homozygous Counts (ExAC)
338
East Asian Allele Frequency (ExAC)
0.28106165971256375
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
57409
Heterozygous Counts in All Race (ExAC)
27607
Homozygous Counts in All Race (ExAC)
14901
Allele Frequency in All Race (ExAC)
0.4730315414785274
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