chr1:67356694:A>G Detail (hg38) (IL12RB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:67,822,377-67,822,377 View the variant detail on this assembly version. |
hg38 | chr1:67,356,694-67,356,694 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001559.2:c.1258+5605A>G | |
NR_047583.1:c.1258+5605A>G | ||
NR_047584.1:c.1258+5605A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.761 | |
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 | Giant Cell Arteritis | Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... | BeFree | 21285166 | Detail |
<0.001 | Giant Cell Arteritis | Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... | BeFree | 21285166 | Detail |
0.007 | Biliary cirrhosis | [Genome-wide meta-analyses identify three loci associated with primary biliary c... | GAD | 20639880 | Detail |
0.123 | Primary biliary cirrhosis | Genome-wide meta-analyses identify three loci associated with primary biliary ci... | GWASCAT | 20639880 | Detail |
0.007 | Biliary cirrhosis | [Our data show significant associations between primary biliary cirrhosis and co... | GAD | 19458352 | Detail |
0.123 | Primary biliary cirrhosis | [Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.] | GAD | 19458352 | Detail |
0.123 | Primary biliary cirrhosis | Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. | GWASCAT | 19458352 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. | DisGeNET | Detail |
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. | DisGeNET | Detail |
[Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.] | DisGeNET | Detail |
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. | DisGeNET | Detail |
[Our data show significant associations between primary biliary cirrhosis and common genetic variant... | DisGeNET | Detail |
[Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.] | DisGeNET | Detail |
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3790567 dbSNP
- Genome
- hg38
- Position
- chr1:67,356,694-67,356,694
- 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))
- rs3790567
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7613
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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