chr3:9757429:A>G Detail (hg38) (OGG1, CAMK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:9,799,113-9,799,113 View the variant detail on this assembly version. |
hg38 | chr3:9,757,429-9,757,429 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003656.4:c.*110T>C | |
Ensemble | ENST00000256460.8:c.*110T>C |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_016828.2:c.948+613A>G | |
NM_016821.2:c.948+613A>G | ||
NM_016829.2:c.948+613A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.057 | |
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 | Neuroectodermal Tumor, Primitive | However, after correcting for multiple comparisons, only the interaction between... | BeFree | 22389292 | Detail |
<0.001 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | However, after correcting for multiple comparisons, only the interaction between... | BeFree | 22389292 | Detail |
<0.001 | extraosseous Ewings sarcoma-primitive neuroepithelial tumor | However, after correcting for multiple comparisons, only the interaction between... | BeFree | 22389292 | Detail |
0.001 | Squamous cell carcinoma of esophagus | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293... | BeFree | 24022861 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... | DisGeNET | Detail |
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... | DisGeNET | Detail |
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... | DisGeNET | Detail |
NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs293795 dbSNP
- Genome
- hg38
- Position
- chr3:9,757,429-9,757,429
- 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))
- rs293795
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0569
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 953
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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