chr8:130685457:T>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:130,685,457-130,685,457 |
| hg38 | chr8:129,673,211-129,673,211 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:0.210 | |
| 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 |
| 0.257 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | 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 |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | 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 |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | 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 |
| 0.269 | 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 |
| 0.052 | Glioma | Case-control analyses stratified into 4 molecular classes (defined by 1p-19q sta... | BeFree | 23161787 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | 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 |
| 0.257 | 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 |
| 0.001 | glioblastoma | CCDC26 (8q24) region polymorphisms are strongly associated with oligodendroglial... | BeFree | 21356187 | Detail |
| 0.130 | Glioma | [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... | GAD | 19578367 | Detail |
| 0.136 | Glioma | Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant... | BeFree | 21920947 | 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 |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | 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 |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | 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 |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | 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 |
| 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 |
| Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, a... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | 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 |
| 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 |
| CCDC26 (8q24) region polymorphisms are strongly associated with oligodendroglial tumor risk (rs42956... | DisGeNET | Detail |
| [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... | DisGeNET | Detail |
| Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4295627 dbSNP
- Genome
- hg19
- Position
- chr8:130,685,457-130,685,457
- 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))
- rs4295627
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2096
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3513
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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