chr5:7878203:A>G Detail (hg38) (MTRR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:7,878,316-7,878,316 View the variant detail on this assembly version. |
| hg38 | chr5:7,878,203-7,878,203 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002454.2:c.742A>G | NP_002445.2:p.Ile248Val |
| NM_024010.2:c.742A>G | NP_076915.2:p.Ile248Val | |
| NR_134480.1:c.742A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
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
- -
- Genome
- hg38
- Position
- chr5:7,878,203-7,878,203
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236418146476461E-6
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