chr10:91827975:A>G Detail (hg38) (TNKS2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:93,587,732-93,587,732 View the variant detail on this assembly version. |
hg38 | chr10:91,827,975-91,827,975 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_025235.3:c.983-310A>G | |
Ensemble | ENST00000371627.5:c.983-310A>G | |
ENST00000710380.1:c.1022-310A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.002 | |
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 |
---|---|---|---|---|---|
0.008 | Malignant neoplasm of breast | The strongest association with BC susceptibility was observed for rs3785074 (TER... | BeFree | 19766477 | Detail |
<0.001 | breast carcinoma | The strongest association with BC susceptibility was observed for rs3785074 (TER... | BeFree | 19766477 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... | DisGeNET | Detail |
The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs10509637 dbSNP
- Genome
- hg38
- Position
- chr10:91,827,975-91,827,975
- 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))
- rs10509637
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0018
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 30
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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