chr6:32664458:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,664,458-32,664,458 |
| hg38 | chr6:32,696,681-32,696,681 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.808 | |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
not provided
|
biliary cirrhosis, primary |
not provided
|
MGS000089
(TMGS000168) |
Minoru Nakamura Minoru Nakamura |
National Hospital Organization Nagasaki Medical Center National Hospital Organization Nagasaki Medical Center |
||||
|
not provided
|
other specified viral encephalitis |
not provided
|
MGS000011
(TMGS000016) |
Fumihiko Matsuda | Kyoto University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.043 | Lupus Erythematosus, Systemic | [We identified and then confirmed through replication two new genetic loci for S... | GAD | 18204098 | Detail |
| 0.001 | Lymphoma, Follicular | In recent genome-wide association studies (GWAS) of FL, several genetic suscepti... | BeFree | 23025665 | Detail |
| <0.001 | Lymphoma, Follicular | The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95... | BeFree | 22911334 | 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, Follicular | We confirmed that FL-protective rs2647012-linked variants, in high linkage diseq... | BeFree | 24304973 | Detail |
| <0.001 | Lymphoma, Follicular | Moreover, DRB1*15-DQA1*01-DQB1*06 was highly correlated with an established FL r... | BeFree | 22296171 | Detail |
| 0.005 | Lymphoma, Follicular | [GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and sugges... | GAD | 21533074 | Detail |
| 0.001 | Lymphoma, Non-Hodgkin | Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were signific... | BeFree | 23455380 | Detail |
| 0.043 | Lupus Erythematosus, Systemic | [Differential genetic associations for systemic lupus erythematosus based on ant... | GAD | 21408207 | Detail |
| 0.008 | leprosy | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... | DisGeNET | Detail |
| In recent genome-wide association studies (GWAS) of FL, several genetic susceptibility loci have bee... | DisGeNET | Detail |
| The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95%CI 1.46-2.26; p = 6... | DisGeNET | Detail |
| Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... | DisGeNET | Detail |
| We confirmed that FL-protective rs2647012-linked variants, in high linkage disequilibrium with the e... | DisGeNET | Detail |
| Moreover, DRB1*15-DQA1*01-DQB1*06 was highly correlated with an established FL risk locus, rs2647012... | DisGeNET | Detail |
| [GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic su... | DisGeNET | Detail |
| Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... | DisGeNET | Detail |
| [Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2647012 dbSNP
- Genome
- hg19
- Position
- chr6:32,664,458-32,664,458
- 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))
- rs2647012
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.808
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13542
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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