chr6:411064:A>G Detail (hg19) (IRF4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:411,064-411,064 |
| hg38 | chr6:411,064-411,064 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001195286.1:c.*3466A>G | |
| NM_002460.3:c.*3466A>G | ||
| NR_046000.2:c.*3466A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.315 | |
| 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 | Malignant neoplasm of skin | Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and ... | BeFree | 24906573 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were signific... | BeFree | 23455380 | Detail |
| 0.001 | Lymphoma, Non-Hodgkin | Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were signific... | BeFree | 23455380 | Detail |
| 0.254 | chronic lymphocytic leukemia | Genome-wide association study identifies multiple risk loci for chronic lymphocy... | GWASCAT | 23770605 | Detail |
| 0.254 | chronic lymphocytic leukemia | A genome-wide association study identifies multiple susceptibility loci for chro... | GWASCAT | 24292274 | Detail |
| 0.009 | lymphoma | [IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma.] | GAD | 19804451 | Detail |
| 0.254 | chronic lymphocytic leukemia | [We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = ... | GAD | 18758461 | Detail |
| 0.254 | chronic lymphocytic leukemia | Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic le... | GWASCAT | 22700719 | Detail |
| 0.006 | Hodgkin Disease | IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. | BeFree | 19804451 | Detail |
| 0.254 | chronic lymphocytic leukemia | We have recently shown that the IRF4 variant rs872071 influences CLL risk. | BeFree | 19804451 | Detail |
| 0.250 | chronic lymphocytic leukemia | We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... | GWASCAT | 18758461 | Detail |
| 0.248 | chronic lymphocytic leukemia | We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... | BeFree | 18758461 | Detail |
| 0.254 | chronic lymphocytic leukemia | We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... | BeFree | 18758461 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and rs872071 with skin c... | DisGeNET | Detail |
| Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... | DisGeNET | Detail |
| Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... | DisGeNET | Detail |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. | DisGeNET | Detail |
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk... | DisGeNET | Detail |
| [IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma.] | DisGeNET | Detail |
| [We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q3... | DisGeNET | Detail |
| Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. | DisGeNET | Detail |
| IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. | DisGeNET | Detail |
| We have recently shown that the IRF4 variant rs872071 influences CLL risk. | DisGeNET | Detail |
| We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... | DisGeNET | Detail |
| We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... | DisGeNET | Detail |
| We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs872071 dbSNP
- Genome
- hg19
- Position
- chr6:411,064-411,064
- 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))
- rs872071
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3149
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5277
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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