chr17:49500756:T>C Detail (hg38) (NGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:47,578,118-47,578,118 View the variant detail on this assembly version. |
| hg38 | chr17:49,500,756-49,500,756 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002507.3:c.67-1307T>C | |
| Ensemble | ENST00000172229.8:c.67-1307T>C | |
| ENST00000504201.1:c.-216-1307T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.442 | |
| 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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... | DisGeNET | Detail |
| Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3785931 dbSNP
- Genome
- hg38
- Position
- chr17:49,500,756-49,500,756
- 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))
- rs3785931
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4422
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7411
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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