chr5:159387525:A>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:158,814,533-158,814,533 View the variant detail on this assembly version. |
| hg38 | chr5:159,387,525-159,387,525 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.920 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.010 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.368 | Crohn Disease | Detection of Mycobacterium avium subspecies paratuberculosis in patients with Cr... | BeFree | 24522266 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.145 | Crohn Disease | [Genome-wide association defines more than 30 distinct susceptibility loci for C... | GAD | 18587394 | Detail |
| 0.002 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.145 | Crohn Disease | [Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s dis... | GAD | 20570966 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.145 | Crohn Disease | Detection of Mycobacterium avium subspecies paratuberculosis in patients with Cr... | BeFree | 24522266 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unr... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| [Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| [Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s disease.] | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unr... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10045431 dbSNP
- Genome
- hg38
- Position
- chr5:159,387,525-159,387,525
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs10045431
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9201
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15421
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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