chr3:105586714:T>C Detail (hg19) (CBLB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:105,586,714-105,586,714 |
hg38 | chr3:105,867,870-105,867,870 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001321820.1:c.-14-279A>G | |
NM_001321822.1:c.-14-279A>G | ||
Ensemble | ENST00000394030.8:c.-14-279A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.588 | |
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 | 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 |
<0.001 | 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 |
0.002 | Autoimmune Diseases | 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 |
<0.001 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
0.248 | multiple sclerosis | Variants within the immunoregulatory CBLB gene are associated with multiple scle... | GWASCAT | 20453840 | Detail |
0.248 | multiple sclerosis | [Variants within the immunoregulatory CBLB gene are associated with multiple scl... | GAD | 20453840 | 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 |
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 |
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 |
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. | DisGeNET | Detail |
[Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.] | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs9657904 dbSNP
- Genome
- hg19
- Position
- chr3:105,586,714-105,586,714
- 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))
- rs9657904
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5879
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9812
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16690
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