chr12:56018703:T>G Detail (hg38) (IKZF4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:56,412,487-56,412,487 View the variant detail on this assembly version. |
| hg38 | chr12:56,018,703-56,018,703 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001351089.1:c.-162+526T>G | |
| Ensemble | ENST00000262032.9:c.-162+526T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.187 | |
| 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 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| <0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| 0.006 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| 0.121 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| <0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| 0.123 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| <0.001 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an in... | GAD | 18198356 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an in... | GAD | 18198356 | Detail |
| 0.005 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... | GAD | 21829393 | Detail |
| 0.002 | alopecia areata | [Genome-wide association study in alopecia areata implicates both innate and ada... | GAD | 20596022 | Detail |
| 0.123 | Diabetes Mellitus, Insulin-Dependent | [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an in... | GAD | 18198356 | Detail |
| 0.002 | asthma | [Genome-wide association study identifies three new susceptibility loci for adul... | GAD | 21804548 | Detail |
| 0.005 | Diabetes Mellitus, Insulin-Dependent | [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an in... | GAD | 18198356 | Detail |
| 0.005 | Diabetes Mellitus, Non-Insulin-Dependent | [These results suggest that individuals with increased genetic susceptibility to... | GAD | 20203524 | Detail |
| 0.120 | asthma | Genome-wide association study identifies three new susceptibility loci for adult... | GWASCAT | 21804548 | Detail |
| 0.242 | alopecia areata | Genome-wide association study in alopecia areata implicates both innate and adap... | GWASCAT | 20596022 | Detail |
| 0.123 | Diabetes Mellitus, Insulin-Dependent | A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a gen... | GWASCAT | 18198356 | Detail |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an in... | GAD | 18198356 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
| [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of ... | DisGeNET | Detail |
| [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of ... | DisGeNET | Detail |
| [Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] | DisGeNET | Detail |
| [Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.] | DisGeNET | Detail |
| [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of ... | DisGeNET | Detail |
| [Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japa... | DisGeNET | Detail |
| [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of ... | DisGeNET | Detail |
| [These results suggest that individuals with increased genetic susceptibility to T2D have decreased ... | DisGeNET | Detail |
| Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japan... | DisGeNET | Detail |
| Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. | DisGeNET | Detail |
| A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association... | DisGeNET | Detail |
| [We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1701704 dbSNP
- Genome
- hg38
- Position
- chr12:56,018,703-56,018,703
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs1701704
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1872
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3138
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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