chr7:81403894:G>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:81,403,894-81,403,894 |
| hg38 | chr7:81,774,578-81,774,578 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.005 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
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 |
|---|---|---|---|---|---|
| <0.001 | 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
| Descrption | Source | Links |
|---|---|---|
| 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 |
- Gene
- -
- dbSNP
- rs17501108 dbSNP
- Genome
- hg19
- Position
- chr7:81,403,894-81,403,894
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs17501108
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0053
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 88
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser