chr2:113074368:T>C Detail (hg38) (IL1F10)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:113,831,945-113,831,945 View the variant detail on this assembly version. |
| hg38 | chr2:113,074,368-113,074,368 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_173161.2:c.72T>C | NP_775184.1:p.Asp24= |
| NM_032556.5:c.72T>C | NP_115945.4:p.Asp24= | |
| Ensemble | ENST00000341010.6:c.72T>C | ENST00000341010.6:p.Asp24= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.607 |
| ToMMo:0.584 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.550 |
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 |
|---|---|---|---|---|---|
| <0.001 | Spondylarthritis | The case-control study revealed an association between another IL1A variant (rs1... | BeFree | 22312160 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.... | 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
- chr2:113,074,368-113,074,368
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1068
- Mean of sample read depth (HGVD)
- 17.64
- Standard deviation of sample read depth (HGVD)
- 11.27
- Number of reference allele (HGVD)
- 838
- Number of alternative allele (HGVD)
- 1297
- Allele Frequency (HGVD)
- 0.6074941451990632
- Gene Symbol (HGVD)
- IL1F10
- 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))
- rs3811058
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5839
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9786
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 4752
- East Asian Heterozygous Counts (ExAC)
- 2136
- East Asian Homozygous Counts (ExAC)
- 1308
- East Asian Allele Frequency (ExAC)
- 0.55
- Chromosome Counts in All Race (ExAC)
- 120372
- Allele Counts in All Race (ExAC)
- 14749
- Heterozygous Counts in All Race (ExAC)
- 11065
- Homozygous Counts in All Race (ExAC)
- 1842
- Allele Frequency in All Race (ExAC)
- 0.12252849499883695
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