chr10:115317652:A>G Detail (hg19) (HABP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:115,317,652-115,317,652 |
| hg38 | chr10:113,557,893-113,557,893 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004132.4:c.69+4703A>G | |
| NM_001177660.2:c.-10+6932A>G | ||
| Ensemble | ENST00000351270.4:c.69+4703A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.518 | |
| 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 | Cerebrovascular accident | Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... | BeFree | 21114618 | Detail |
| <0.001 | Cerebrovascular accident | Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... | BeFree | 21114618 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Among whites, six SNPs were associated with stroke, with a nominal P-value of < 0.01: rs6046 and ... | DisGeNET | Detail |
| Among whites, six SNPs were associated with stroke, with a nominal P-value of < 0.01: rs6046 and ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3781387 dbSNP
- Genome
- hg19
- Position
- chr10:115,317,652-115,317,652
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs3781387
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5177
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8677
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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