chr6:32216568:T>C Detail (hg38) (NOTCH4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,184,345-32,184,345 View the variant detail on this assembly version. |
| hg38 | chr6:32,216,568-32,216,568 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004557.3:c.1861+377A>G | |
| NR_134949.1:c.1861+377A>G | ||
| NR_134950.1:c.1861+377A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.470 | |
| 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 |
|---|---|---|---|---|---|
| 0.021 | asthma | We observed the most significant association with adult asthma at rs404860 in th... | BeFree | 21804548 | Detail |
| 0.122 | asthma | [Genome-wide association study identifies three new susceptibility loci for adul... | GAD | 21804548 | Detail |
| 0.122 | asthma | Genome-wide association study identifies three new susceptibility loci for adult... | GWASCAT | 21804548 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We observed the most significant association with adult asthma at rs404860 in the major histocompati... | DisGeNET | Detail |
| [Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japa... | DisGeNET | Detail |
| Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japan... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs404860 dbSNP
- Genome
- hg38
- Position
- chr6:32,216,568-32,216,568
- 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))
- rs404860
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4703
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7883
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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