chr1:169700502:T>C Detail (hg19) (SELE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:169,700,502-169,700,502 |
| hg38 | chr1:169,731,361-169,731,361 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000450.2:c.529+474A>G | |
| Ensemble | ENST00000367774.1:c.529+474A>G | |
| ENST00000367776.5:c.529+474A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.735 | |
| 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 | Recurrent tumor | Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serv... | BeFree | 24980946 | Detail |
| <0.001 | intestinal perforation | The combination of the selectin E (SELE) rs3917412 G>A G/G and the methylente... | BeFree | 24980946 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serve as pharmacogenetic... | DisGeNET | Detail |
| The combination of the selectin E (SELE) rs3917412 G>A G/G and the methylentetrahydrofolate reduc... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3917412 dbSNP
- Genome
- hg19
- Position
- chr1:169,700,502-169,700,502
- 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))
- rs3917412
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.735
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12318
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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