chr5:7869217:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr5:7,869,217-7,901,237
hg38 chr5:7,869,104-7,901,124 

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
0.002 squamous cell carcinoma NA GAD Detail
0.003 Cardiovascular Diseases NA BeFree,GAD Detail
0.002 brain ischemia NA GAD Detail
0.002 Cerebrovascular Disorders NA GAD Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
0.005 cleft lip NA GAD Detail
0.005 cleft palate NA GAD Detail
<0.001 Cognition Disorders Polymorphisms of genes involved in B vitamin absorption, metabolism and function... BeFree 25173634 Detail
0.003 ulcerative colitis NA BeFree,GAD Detail
0.122 Colorectal Neoplasms NA CTD_human,GAD Detail
0.006 Coronary Arteriosclerosis NA BeFree,GAD Detail
0.003 Crohn Disease NA BeFree,GAD Detail
0.002 Demyelinating Diseases NA GAD Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.003 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
0.040 Down syndrome The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down synd... BeFree,GAD,LHGDN 24965145 Detail
0.040 Down syndrome In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) pol... BeFree,GAD,LHGDN 25544792 Detail
0.002 drug allergy NA GAD Detail
0.003 epilepsy NA BeFree,GAD Detail
<0.001 Exanthema NA BeFree Detail
0.002 Fetal Growth Retardation NA GAD Detail
0.002 Folic Acid Deficiency NA GAD Detail
0.005 Glioma NA GAD,LHGDN Detail
0.120 IgA glomerulonephritis NA CTD_human Detail
<0.001 gonorrhea In conclusion, the high level of resistance to quinolone and single or multiple ... BeFree 25865983 Detail
0.005 Head and Neck Neoplasms NA GAD,LHGDN Detail
<0.001 Sensorineural Hearing Loss (disorder) NA BeFree Detail
0.002 Heart Septal Defects NA GAD Detail
0.003 hepatitis B NA BeFree,GAD Detail
0.122 homocystinuria The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinur... BeFree,CTD_human 25878036 Detail
0.002 Huntington disease NA GAD Detail
0.003 Hypertensive disease NA BeFree,GAD Detail
0.002 Inflammatory Bowel Diseases NA GAD Detail
<0.001 Kidney Diseases NA BeFree Detail
0.005 chronic lymphocytic leukemia NA GAD Detail
0.002 lymphoid leukemia NA GAD Detail
0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
0.002 Liver neoplasms NA GAD Detail
0.003 Chronic Obstructive Airway Disease NA BeFree,GAD Detail
0.002 Lung Neoplasms NA GAD Detail
0.002 Lupus Erythematosus, Systemic NA GAD Detail
0.002 Lymphoma, Follicular NA GAD Detail
0.006 Lymphoma, Non-Hodgkin NA BeFree,GAD Detail
0.002 Marijuana Abuse NA GAD Detail
0.001 Carcinoma of lung SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 9... BeFree 23372658 Detail
0.011 Malignant neoplasm of lung SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 9... BeFree 23372658 Detail
0.002 melanoma NA GAD Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.006 meningioma NA BeFree,GAD,LHGDN Detail
0.002 Metabolic Diseases NA GAD Detail
0.008 multiple myeloma NA BeFree,GAD,LHGDN Detail
0.002 multiple sclerosis NA GAD Detail
0.120 nervous system disorder NA CTD_human Detail
0.024 Neural Tube Defects NA GAD,LHGDN 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
0.003 obesity NA BeFree,GAD Detail
0.002 oligospermia NA GAD Detail
0.007 Pancreatic Neoplasm NA GAD,LHGDN Detail
0.005 Parkinson disease NA GAD Detail
0.002 Phenylketonurias NA GAD Detail
0.002 placental insufficiency NA GAD Detail
0.005 pre-eclampsia NA GAD Detail
0.002 Pregnancy Complications, Cardiovascular NA GAD Detail
0.002 Psychoses, Substance-Induced NA GAD Detail
0.040 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.003 schizophrenia NA BeFree,LHGDN Detail
0.005 Stomach Neoplasms NA GAD Detail
0.010 Cerebrovascular accident NA BeFree,GAD,LHGDN Detail
<0.001 Giant Cell Arteritis NA BeFree Detail
<0.001 Thromboembolism NA BeFree Detail
<0.001 Trisomy NA BeFree Detail
0.120 Adverse reaction to drug NA CTD_human Detail
0.003 Vascular Diseases NA BeFree,GAD Detail
0.005 Venous Thrombosis NA GAD,LHGDN Detail
0.002 Vitamin B Deficiency NA GAD Detail
0.005 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.005 T-Cell Lymphoma NA BeFree,GAD Detail
0.020 spina bifida NA BeFree,GAD,LHGDN Detail
<0.001 Deep Vein Thrombosis NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Migraine Disorders NA BeFree Detail
0.005 Premature Birth NA GAD Detail
0.002 Myocardial Ischemia NA GAD Detail
<0.001 Deep thrombophlebitis NA BeFree Detail
<0.001 congenital heart disease NA BeFree Detail
<0.001 migraine with aura NA BeFree Detail
0.002 adrenoleukodystrophy NA GAD Detail
0.002 iron deficiency anemia NA GAD Detail
0.002 Aortic Aneurysm, Abdominal NA GAD Detail
<0.001 Cervical Intraepithelial Neoplasia NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
0.011 Malignant neoplasm of lung NA BeFree,GAD Detail
0.005 age related macular degeneration NA GAD Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D NA BeFree Detail
<0.001 adult meningioma NA BeFree Detail
0.002 Cancer of Head and Neck NA GAD Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
<0.001 Deep vein thrombosis of lower limb NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
0.003 Avitaminosis NA BeFree,GAD Detail
0.010 Malignant neoplasm of prostate NA BeFree,GAD Detail
0.002 Hematologic Neoplasms NA GAD Detail
0.002 Malignant neoplasm of esophagus NA GAD Detail
0.005 Methotrexate poisoning NA GAD Detail
<0.001 Carcinogenesis NA BeFree Detail
0.141 hyperhomocysteinemia Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia,... BeFree,CTD_human,GAD,LHGDN 24913415 Detail
<0.001 prostate carcinoma NA BeFree Detail
0.005 Choroidal Neovascularization NA GAD Detail
0.003 breast carcinoma NA BeFree Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node MTRR 66 GA + GG genotypes decreased the risk of death (HR = 0.793, 95% CI = 0.65... BeFree 25840420 Detail
0.002 Chronic progressive chorea NA GAD Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.002 Cardiac defects NA GAD Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
0.002 Congenital omphalocele NA GAD Detail
<0.001 Spots on skin NA BeFree Detail
0.002 Carcinoma, Pancreatic Ductal NA GAD Detail
<0.001 Metastatic Prostate Carcinoma NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
0.040 Down syndrome The aim of the present study was to investigate the effect of polymorphisms C677... BeFree 18273817 Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Adenoma of large intestine NA BeFree Detail
<0.001 childhood leukemia NA BeFree Detail
0.002 gastric cardia carcinoma NA GAD Detail
0.003 Mammary Neoplasms NA LHGDN Detail
<0.001 Vitamin Deficiency NA BeFree Detail
0.002 Fetus affected by placental transfer of anticonvulsant NA GAD Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
0.009 Venous thromboembolism NA GAD Detail
0.120 Neural tube defect, folate-sensitive NA CTD_human Detail
0.006 coronary artery disease NA BeFree,GAD Detail
0.005 liver carcinoma NA BeFree,GAD,LHGDN Detail
<0.001 Hyperdiploid B Acute Lymphoblastic Leukemia NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
0.082 Homocysteinemia Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia,... BeFree,MGD 24913415 Detail
0.005 Hyperhomocystinemia NA GAD Detail
0.005 Congenital Abnormality NA GAD Detail
0.002 adenocarcinoma NA GAD Detail
0.120 adenoma NA CTD_human Detail
0.002 Alcoholic Intoxication, Chronic NA GAD Detail
0.003 Alzheimer's disease NA LHGDN Detail
<0.001 Anemia, Megaloblastic NA BeFree Detail
<0.001 aortic aneurysm NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
0.010 rheumatoid arthritis NA BeFree,GAD,LHGDN Detail
0.005 atherosclerosis NA BeFree,GAD Detail
0.003 autistic disorder NA BeFree,GAD Detail
0.003 bipolar disorder NA LHGDN Detail
0.008 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.002 Brain Neoplasms NA GAD Detail
0.017 Malignant neoplasm of breast NA BeFree,GAD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
0.003 Non-small cell lung carcinoma NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Polymorphisms of genes involved in B vitamin absorption, metabolism and function, such as methylene ... DisGeNET Detail
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The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian wo... DisGeNET Detail
In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1... DisGeNET Detail
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In conclusion, the high level of resistance to quinolone and single or multiple mutations in mtrR ge... DisGeNET Detail
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The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening ... DisGeNET Detail
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SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs... DisGeNET Detail
SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs... DisGeNET Detail
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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
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In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
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Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia, a risk factor relat... DisGeNET Detail
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MTRR 66 GA + GG genotypes decreased the risk of death (HR = 0.793, 95% CI = 0.651-0.967) in general,... DisGeNET Detail
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The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the ... DisGeNET Detail
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Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia, a risk factor relat... 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
rs386493716 dbSNP
Genome
hg19
Position
chr5:7,869,217-7,901,237
Variant Type
snv
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