chr1:236958592:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr1:236,958,592-237,067,281
hg38 chr1:236,795,292-236,903,981 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 squamous cell carcinoma NA BeFree,GAD Detail
0.003 Carcinoma, Transitional Cell NA BeFree,GAD Detail
0.003 Cardiovascular Diseases NA BeFree,GAD Detail
0.002 Neoplastic Cell Transformation NA GAD Detail
0.003 intracranial aneurysm NA BeFree,GAD Detail
0.002 brain ischemia NA GAD Detail
0.001 Malignant tumor of cervix NA BeFree Detail
0.002 Uterine Cervical Neoplasm NA GAD Detail
0.005 Chromosome Aberrations NA GAD Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
0.132 cleft lip NA CTD_human,GAD,LHGDN Detail
0.132 cleft palate NA CTD_human,GAD,LHGDN Detail
0.005 ulcerative colitis NA BeFree,GAD,LHGDN Detail
0.002 colorectal carcinoma Quantitative assessment of the association between MS gene polymorphism and colo... BeFree 25077679 Detail
0.005 Colorectal Neoplasms NA GAD Detail
0.006 Coronary Arteriosclerosis NA BeFree,GAD Detail
0.010 Coronary heart disease NA BeFree,GAD,LHGDN Detail
0.003 Crohn Disease NA BeFree,GAD Detail
0.002 Hearing Loss, Sudden NA GAD Detail
<0.001 Presenile dementia NA BeFree Detail
0.003 Demyelinating Diseases NA BeFree,GAD Detail
0.003 Mental Depression NA BeFree,GAD Detail
<0.001 depressive disorder NA BeFree Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
0.080 Diabetes Mellitus, Non-Insulin-Dependent NA RGD Detail
0.009 DNA Damage NA GAD Detail
0.153 Down syndrome The case-control study revealed association of the polymorphism with increased f... BeFree,CTD_human,GAD,LHGDN 24965145 Detail
0.002 drug allergy NA GAD Detail
0.002 Edema NA GAD Detail
0.003 epilepsy NA BeFree,GAD Detail
<0.001 Esophageal Neoplasms NA BeFree Detail
0.002 Fetal Growth Retardation NA GAD Detail
0.005 Folic Acid Deficiency NA BeFree,GAD Detail
0.122 Gastrointestinal Diseases NA CTD_human,GAD Detail
0.006 glioblastoma NA BeFree,LHGDN Detail
0.002 Glioma NA GAD Detail
<0.001 IgA glomerulonephritis NA BeFree Detail
0.010 Head and Neck Neoplasms NA GAD,LHGDN Detail
0.003 Sensorineural Hearing Loss (disorder) NA BeFree,GAD Detail
0.010 congenital heart defects NA BeFree,GAD,LHGDN Detail
0.002 Heart Septal Defects NA GAD Detail
0.122 Hematological Disease NA CTD_human,GAD Detail
0.001 homocystinuria NA BeFree Detail
0.002 Huntington disease NA GAD Detail
0.003 Hyperlipidemia NA BeFree,GAD Detail
0.005 Hypertensive disease We investigated the expression of MTR and MTHFR in human term placenta obtained ... BeFree,GAD 25277375 Detail
0.003 Inflammatory Bowel Diseases NA BeFree,GAD Detail
0.002 Kidney Diseases NA GAD Detail
<0.001 Kidney Failure, Chronic NA BeFree Detail
0.003 leukemia The MTRR rs1801394>A66G (rs1801394) polymorphism is found to be associated with ... BeFree,GAD 24261678 Detail
0.001 Acute lymphocytic leukemia NA BeFree Detail
0.003 Leukemia, Myelocytic, Acute NA BeFree,GAD Detail
<0.001 leukopenia NA BeFree Detail
<0.001 liver cirrhosis NA BeFree Detail
0.003 Chronic Obstructive Airway Disease NA BeFree,GAD Detail
0.003 Lung Neoplasms NA BeFree,GAD Detail
0.005 Lupus Erythematosus, Systemic NA BeFree,GAD,LHGDN Detail
0.136 lymphoma NA BeFree,CTD_human,GAD Detail
0.123 Lymphoma, Follicular NA BeFree,CTD_human,GAD Detail
0.010 Lymphoma, Non-Hodgkin NA BeFree,GAD Detail
<0.001 malaria NA BeFree Detail
0.002 Marijuana Abuse NA GAD Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.007 meningioma NA GAD,LHGDN Detail
0.002 Metabolic Diseases NA GAD Detail
0.006 multiple myeloma NA BeFree,GAD Detail
0.001 multiple sclerosis To investigate the impact of established MS genetic risk variants on MS phenotyp... BeFree 24099750 Detail
0.001 multiple sclerosis In April 2013, a symposium in Warsaw, Poland, was the first meeting entirely ded... BeFree 24552748 Detail
0.008 myocardial infarction NA BeFree,GAD Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
<0.001 nervous system disorder NA BeFree Detail
0.017 Neural Tube Defects NA GAD,LHGDN Detail
0.003 neutropenia NA BeFree,GAD Detail
0.003 obesity NA BeFree,GAD Detail
0.002 oligospermia NA GAD Detail
0.002 osteosarcoma NA GAD Detail
0.005 Pancreatic Neoplasm NA GAD,LHGDN Detail
0.007 Parkinson disease NA GAD Detail
0.120 Peripheral neuropathy NA CTD_human Detail
0.002 Phenylketonurias NA GAD Detail
0.002 placental insufficiency NA GAD Detail
0.003 polycystic ovary syndrome NA BeFree,GAD Detail
0.005 pre-eclampsia NA GAD Detail
0.002 Prostatic Neoplasms NA GAD Detail
0.002 Psychoses, Substance-Induced NA GAD 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
0.001 Malignant tumor of cervix Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239G... BeFree 21349258 Detail
0.003 retinoblastoma NA BeFree,GAD Detail
<0.001 Rheumatoid Nodule NA BeFree Detail
0.005 Stomach Neoplasms NA GAD Detail
0.007 Cerebrovascular accident NA BeFree,GAD Detail
<0.001 Thromboembolism NA BeFree Detail
0.120 Adverse reaction to drug NA CTD_human Detail
0.006 Vascular Diseases NA BeFree,GAD,LHGDN Detail
0.002 Venous Thrombosis NA GAD Detail
0.081 Vitamin B 12 Deficiency NA BeFree,RGD Detail
0.002 Vitamin B Deficiency NA GAD Detail
0.003 B-Cell Lymphomas NA BeFree,GAD Detail
0.003 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.002 T-Cell Lymphoma NA GAD Detail
0.016 spina bifida NA BeFree,GAD,LHGDN Detail
0.007 Central Nervous System Neoplasms NA GAD Detail
0.002 Neoplasms, Second Primary NA GAD Detail
<0.001 essential hypertension NA BeFree Detail
<0.001 Deep Vein Thrombosis NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
0.003 Migraine Disorders NA BeFree,GAD Detail
0.002 Myocardial Ischemia NA GAD Detail
<0.001 Pleocytosis NA BeFree Detail
<0.001 Deep thrombophlebitis NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 congenital heart disease NA BeFree Detail
0.002 Malignant neoplasm of brain NA GAD Detail
<0.001 migraine with aura NA BeFree Detail
<0.001 Cleft palate with cleft lip NA BeFree Detail
0.002 adrenoleukodystrophy NA GAD Detail
0.002 iron deficiency anemia NA GAD Detail
0.122 Malnutrition NA CTD_human,GAD Detail
<0.001 Prion Diseases NA BeFree Detail
0.002 Aortic Aneurysm, Abdominal NA GAD Detail
0.003 Cervical Intraepithelial Neoplasia NA BeFree,GAD Detail
<0.001 Lesion of brain NA BeFree Detail
<0.001 Fibrillation NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
0.002 coronary stenosis NA GAD Detail
0.011 Malignant neoplasm of lung NA BeFree,GAD Detail
0.005 age related macular degeneration NA GAD Detail
<0.001 Chronic Periodontitis NA BeFree Detail
0.120 Leukoencephalopathies NA CTD_human Detail
<0.001 Coinfection NA BeFree Detail
<0.001 Malignant Childhood Neoplasm NA BeFree Detail
<0.001 adult meningioma NA BeFree Detail
0.003 Cancer of Head and Neck NA BeFree,GAD Detail
0.480 Methylcobalamin Deficiency, CblG Type Human methionine synthase: cDNA cloning and identification of mutations in patie... UNIPROT 8968737 Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
<0.001 cervical squamous cell carcinoma NA BeFree Detail
<0.001 Transitional cell carcinoma of bladder NA BeFree Detail
<0.001 Primary central nervous system lymphoma NA BeFree Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Deep vein thrombosis of lower limb NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Cervical intraepithelial neoplasia grade 2 NA BeFree Detail
0.002 Avitaminosis NA GAD Detail
0.009 Malignant neoplasm of prostate NA BeFree,GAD Detail
<0.001 dementia NA BeFree Detail
0.002 body mass NA GAD Detail
0.002 Retinal Neoplasms NA GAD Detail
0.003 Malignant neoplasm of esophagus NA BeFree,GAD Detail
0.002 Methotrexate poisoning NA GAD Detail
<0.001 Severe depression NA BeFree Detail
0.002 Carcinogenesis NA BeFree Detail
0.022 hyperhomocysteinemia NA BeFree,GAD,LHGDN Detail
0.001 prostate carcinoma NA BeFree Detail
0.005 Choroidal Neovascularization NA GAD Detail
0.005 breast carcinoma Association of methylenetetrahydrofolate reductase and methionine synthase polym... BeFree 25217320 Detail
0.005 breast carcinoma Therefore, DNA methylation related genes, such as methylenetetrahydrofolate redu... BeFree 25270516 Detail
0.005 breast carcinoma Association between dietary intake of folate and MTHFR and MTR genotype with ris... BeFree 25366783 Detail
0.005 breast carcinoma Loss of heterogeneity (LOH) of the MIIP gene was determined using single-nucleot... BeFree 25873164 Detail
0.001 Carcinoma of lung NA BeFree Detail
0.002 Chronic progressive chorea NA GAD Detail
<0.001 colon carcinoma NA BeFree Detail
0.002 Carcinoma of bladder NA BeFree Detail
0.002 Cardiac defects NA GAD Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 Cancer of Digestive System NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 Multiple Sclerosis, Primary Progressive NA BeFree Detail
0.028 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.153 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
<0.001 Ischemic stroke NA BeFree Detail
0.002 Acute coronary syndrome NA GAD Detail
0.010 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
<0.001 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 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.004 Adenoma of large intestine NA BeFree,GAD Detail
<0.001 Megaloblastic anemia due to inborn errors of metabolism NA BeFree Detail
<0.001 childhood leukemia NA BeFree Detail
0.123 Mammary Neoplasms NA CTD_human,LHGDN Detail
0.042 colorectal cancer Quantitative assessment of the association between MS gene polymorphism and colo... BeFree,GAD 25077679 Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
0.002 Fetus affected by placental transfer of anticonvulsant NA GAD Detail
<0.001 Fast acetylator due to N-acetyltransferase enzyme variant NA BeFree Detail
0.120 orofacial cleft 1 NA CTD_human Detail
0.120 Neural tube defect, folate-sensitive NA CTD_human Detail
0.010 coronary artery disease NA BeFree,GAD Detail
<0.001 Cardiac Carcinoma NA BeFree Detail
0.010 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,GAD Detail
<0.001 Leukemia, B-Cell NA BeFree Detail
<0.001 Urothelial Carcinoma NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 High grade dysplastic nodule NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
<0.001 Severe dementia NA BeFree Detail
0.002 Homocysteinemia NA BeFree Detail
<0.001 Opticospinal Multiple Sclerosis NA BeFree Detail
0.002 Hyperhomocystinemia NA GAD Detail
0.005 Congenital Abnormality NA BeFree,GAD Detail
0.007 adenocarcinoma NA GAD Detail
0.005 adenoma NA GAD,LHGDN Detail
0.008 Alzheimer's disease NA BeFree,GAD Detail
<0.001 anorexia nervosa NA BeFree Detail
0.010 rheumatoid arthritis NA BeFree,GAD Detail
0.005 atherosclerosis NA GAD Detail
0.003 autistic disorder NA BeFree,GAD Detail
0.003 azoospermia NA BeFree,GAD Detail
0.003 bipolar disorder NA BeFree,GAD Detail
0.016 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.005 Bladder Neoplasm NA GAD,LHGDN Detail
0.002 Bone neoplasms NA GAD Detail
0.005 Brain Neoplasms NA GAD Detail
0.028 Malignant neoplasm of breast Association of methylenetetrahydrofolate reductase and methionine synthase polym... BeFree,GAD 25217320 Detail
0.028 Malignant neoplasm of breast Therefore, DNA methylation related genes, such as methylenetetrahydrofolate redu... BeFree,GAD 25270516 Detail
0.028 Malignant neoplasm of breast Association between dietary intake of folate and MTHFR and MTR genotype with ris... BeFree,GAD 25366783 Detail
0.028 Malignant neoplasm of breast Loss of heterogeneity (LOH) of the MIIP gene was determined using single-nucleot... BeFree,GAD 25873164 Detail
0.003 Malignant tumor of colon NA BeFree,GAD Detail
0.003 Non-small cell lung carcinoma NA BeFree,GAD Detail
Annotation

Annotations

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Quantitative assessment of the association between MS gene polymorphism and colorectal cancer risk. DisGeNET Detail
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The case-control study revealed association of the polymorphism with increased folate levels, and a ... DisGeNET Detail
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We investigated the expression of MTR and MTHFR in human term placenta obtained from normal and preg... DisGeNET Detail
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The MTRR rs1801394>A66G (rs1801394) polymorphism is found to be associated with decreased enzyme aff... DisGeNET Detail
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To investigate the impact of established MS genetic risk variants on MS phenotypes, in well-characte... DisGeNET Detail
In April 2013, a symposium in Warsaw, Poland, was the first meeting entirely dedicated to advances i... DisGeNET Detail
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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
Employing PCR-RFLPs and HRM analyses, we examined the prevalence of BHMT Arg239Gln (rs3733890), MTR ... DisGeNET Detail
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Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG comp... DisGeNET Detail
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Association of methylenetetrahydrofolate reductase and methionine synthase polymorphisms with breast... DisGeNET Detail
Therefore, DNA methylation related genes, such as methylenetetrahydrofolate reductase (MTHFR), methi... DisGeNET Detail
Association between dietary intake of folate and MTHFR and MTR genotype with risk of breast cancer. DisGeNET Detail
Loss of heterogeneity (LOH) of the MIIP gene was determined using single-nucleotide polymorphism (SN... DisGeNET Detail
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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
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Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... 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
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Quantitative assessment of the association between MS gene polymorphism and colorectal cancer risk. DisGeNET Detail
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Association of methylenetetrahydrofolate reductase and methionine synthase polymorphisms with breast... DisGeNET Detail
Therefore, DNA methylation related genes, such as methylenetetrahydrofolate reductase (MTHFR), methi... DisGeNET Detail
Association between dietary intake of folate and MTHFR and MTR genotype with risk of breast cancer. DisGeNET Detail
Loss of heterogeneity (LOH) of the MIIP gene was determined using single-nucleotide polymorphism (SN... DisGeNET Detail
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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
rs28933097 dbSNP
Genome
hg19
Position
chr1:236,958,592-237,067,281
Variant Type
snv
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