chr12:56076841:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:56,470,625-56,470,625 View the variant detail on this assembly version. |
| hg38 | chr12:56,076,841-56,076,841 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.801 | |
| 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 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.003 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.001 | Diabetes Mellitus, Insulin-Dependent | The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabete... | BeFree | 22144904 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabete... | BeFree | 22144904 | Detail |
| 0.005 | Diabetes Mellitus, Insulin-Dependent | The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabete... | BeFree | 22144904 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabetes locus, was associa... | DisGeNET | Detail |
| The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabetes locus, was associa... | DisGeNET | Detail |
| The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabetes locus, was associa... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11171739 dbSNP
- Genome
- hg38
- Position
- chr12:56,076,841-56,076,841
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs11171739
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.801
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13422
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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