chr5:1296486:A>G Detail (hg19) (TERT, LOC110806263)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,296,486-1,296,486 |
| hg38 | chr5:1,296,371-1,296,371 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:0.659 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | Uncertain significance; association |
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2016-09-01 | no assertion criteria provided | Chronic osteomyelitis |
tested-inconclusive
|
Detail |
Uncertain significance
|
2006-09-22 | no assertion criteria provided | Coronary artery disease, susceptibility to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Colonic Polyps | None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, ... | BeFree | 22495810 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | Our findings suggested that TERT promoter rs2735940 polymorphism may affect the ... | BeFree | 23066086 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.2(TERT):c.-1382T>C AND Chronic osteomyelitis | ClinVar | Detail |
| NM_198253.2(TERT):c.-1382T>C AND Coronary artery disease, susceptibility to | ClinVar | Detail |
| None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100... | DisGeNET | Detail |
| Our findings suggested that TERT promoter rs2735940 polymorphism may affect the TERT activity, and r... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2735940 dbSNP
- Genome
- hg19
- Position
- chr5:1,296,486-1,296,486
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs2735940
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6588
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11041
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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