chr1:154426264:C>T Detail (hg19) (IL6R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:154,426,264-154,426,264 |
| hg38 | chr1:154,453,788-154,453,788 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_181359.2:c.1066+3808C>T | |
| NM_000565.3:c.1067-700C>T | ||
| Ensemble | ENST00000344086.8:c.1066+3808C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.380 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Fatigue | The associations between fatigue and SNPs in inflammation-related genes; IL1β (r... | BeFree | 21496483 | Detail |
| 0.131 | asthma | Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. | GWASCAT | 21907864 | Detail |
| <0.001 | asthma | Two loci were confirmed to associate with asthma risk in the replication cohorts... | BeFree | 21907864 | Detail |
| 0.131 | asthma | [Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.] | GAD | 21907864 | Detail |
| 0.122 | Fibrinogen Adverse Event | Multiethnic meta-analysis of genome-wide association studies in >100 000 subj... | GWASCAT | 23969696 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800... | DisGeNET | Detail |
| Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. | DisGeNET | Detail |
| Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-... | DisGeNET | Detail |
| [Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.] | DisGeNET | Detail |
| Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 f... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4129267 dbSNP
- Genome
- hg19
- Position
- chr1:154,426,264-154,426,264
- 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))
- rs4129267
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3805
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6377
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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