chr9:22068652:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,068,652-22,068,652 |
| hg38 | chr9:22,068,653-22,068,653 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:0.732 | |
| 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 |
|---|---|---|---|---|---|
| 0.130 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.257 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.223 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.173 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.257 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.269 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.130 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.136 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.136 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.173 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.257 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.012 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.130 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.252 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.269 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.173 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.130 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.173 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.252 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.269 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.136 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.136 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.130 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.006 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.136 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.257 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.130 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.173 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.257 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.136 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.269 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.252 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.269 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.269 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.173 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.025 | squamous cell carcinoma | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are loca... | BeFree | 24681604 | Detail |
| 0.155 | Malignant neoplasm of lung | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are loca... | BeFree | 24681604 | Detail |
| 0.012 | adenocarcinoma | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are loca... | BeFree | 24681604 | Detail |
| 0.015 | Carcinoma of lung | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are loca... | BeFree | 24681604 | Detail |
| 0.257 | Glioma | Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant... | BeFree | 21920947 | Detail |
| 0.173 | Glioma | Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant... | BeFree | 21920947 | Detail |
| 0.136 | Glioma | Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant... | BeFree | 21920947 | Detail |
| 0.173 | Glioma | [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... | GAD | 19578367 | Detail |
| 0.136 | Glioma | [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... | GAD | 19578367 | Detail |
| 0.121 | Glioma | We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 contro... | GWASCAT | 22886559 | Detail |
| 0.121 | Glioma | Genome-wide association study identifies five susceptibility loci for glioma. | GWASCAT | 19578367 | Detail |
| 0.121 | glaucoma | Genome-wide association study identifies susceptibility loci for open angle glau... | GWASCAT | 21532571 | Detail |
| 0.121 | glaucoma | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle gla... | GWASCAT | 25173105 | Detail |
| <0.001 | childhood brain tumor | The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... | BeFree | 26014354 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previ... | DisGeNET | Detail |
| Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previ... | DisGeNET | Detail |
| Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previ... | DisGeNET | Detail |
| Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previ... | DisGeNET | Detail |
| Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2... | DisGeNET | Detail |
| Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2... | DisGeNET | Detail |
| Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2... | DisGeNET | Detail |
| [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... | DisGeNET | Detail |
| [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... | DisGeNET | Detail |
| We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort s... | DisGeNET | Detail |
| Genome-wide association study identifies five susceptibility loci for glioma. | DisGeNET | Detail |
| Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CD... | DisGeNET | Detail |
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. | DisGeNET | Detail |
| The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4977756 dbSNP
- Genome
- hg19
- Position
- chr9:22,068,652-22,068,652
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs4977756
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.732
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12268
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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