chrX:155999524:T>C Detail (hg38) (IL9R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:155,229,189-155,229,189 View the variant detail on this assembly version. |
| hg38 | chrX:155,999,524-155,999,524 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002186.2:c.28+1737T>C | |
| NM_176786.1:c.44+1737T>C | ||
| Ensemble | ENST00000244174.11:c.28+1737T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.711 | |
| 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 | Alzheimer's disease | In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT geno... | BeFree | 21371865 | Detail |
| <0.001 | Alzheimer's disease | In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT geno... | BeFree | 21371865 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT genotype combination (IL... | DisGeNET | Detail |
| In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT genotype combination (IL... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3093467 dbSNP
- Genome
- hg38
- Position
- chrX:155,999,524-155,999,524
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs3093467
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7107
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11911
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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