chr6:31572364:A>C Detail (hg38) (LTA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,540,141-31,540,141 View the variant detail on this assembly version. |
| hg38 | chr6:31,572,364-31,572,364 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000595.3:c.-92A>C | |
| Ensemble | ENST00000418386.3:c.-92A>C | |
| ENST00000454783.5:c.-10+62A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.583 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.050 | Lymphoma, Non-Hodgkin | A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis fac... | BeFree | 17018637 | Detail |
| 0.026 | Lymphoma, Non-Hodgkin | A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis fac... | BeFree | 17018637 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis factor-alpha and lympho... | DisGeNET | Detail |
| A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis factor-alpha and lympho... | 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
- rs2239704 dbSNP
- Genome
- hg38
- Position
- chr6:31,572,364-31,572,364
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs2239704
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5826
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16752
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