chr2:113886503:G>A Detail (hg19) (IL1RN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:113,886,503-113,886,503 |
| hg38 | chr2:113,128,926-113,128,926 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_173841.2:c.126-650G>A | |
| NM_000577.4:c.63-650G>A | ||
| NM_001318914.1:c.15-650G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.050 | |
| 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 |
|---|---|---|---|---|---|
| 0.009 | schizophrenia | Neither combined nor stratified analyses found any association of the rs1800587 ... | BeFree | 20347268 | Detail |
| 0.003 | schizophrenia | Neither combined nor stratified analyses found any association of the rs1800587 ... | BeFree | 20347268 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Neither combined nor stratified analyses found any association of the rs1800587 (IL1A gene; T-889C) ... | DisGeNET | Detail |
| Neither combined nor stratified analyses found any association of the rs1800587 (IL1A gene; T-889C) ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1794068 dbSNP
- Genome
- hg19
- Position
- chr2:113,886,503-113,886,503
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs1794068
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0497
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 833
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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