chr2:112782600:C>T Detail (hg38) (IL1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:113,540,177-113,540,177 View the variant detail on this assembly version. |
| hg38 | chr2:112,782,600-112,782,600 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000575.4:c.96+116G>A | |
| Ensemble | ENST00000263339.4:c.96+116G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.105 | |
| 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 |
|---|---|---|---|---|---|
| 0.008 | ankylosing spondylitis | In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs189... | BeFree | 21962386 | Detail |
| 0.015 | ankylosing spondylitis | In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs189... | BeFree | 21962386 | Detail |
| <0.001 | Spondylarthritis | The case-control study revealed an association between another IL1A variant (rs1... | BeFree | 22312160 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previ... | DisGeNET | Detail |
| In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previ... | DisGeNET | Detail |
| The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1894399 dbSNP
- Genome
- hg38
- Position
- chr2:112,782,600-112,782,600
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs1894399
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1054
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1766
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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