chr12:94834510:G>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:95,228,286-95,228,286 View the variant detail on this assembly version. |
| hg38 | chr12:94,834,510-94,834,510 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.249 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.244 |
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 |
|---|---|---|---|---|---|
| <0.001 | Non-small cell lung carcinoma | Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs65051... | BeFree | 22818121 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs6505162/miR-423, rs228903... | 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
- rs2289030 dbSNP
- Genome
- hg38
- Position
- chr12:94,834,510-94,834,510
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs2289030
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2485
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4165
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8594
- East Asian Allele Counts (ExAC)
- 2100
- East Asian Heterozygous Counts (ExAC)
- 1564
- East Asian Homozygous Counts (ExAC)
- 268
- East Asian Allele Frequency (ExAC)
- 0.24435652781010006
- Chromosome Counts in All Race (ExAC)
- 121056
- Allele Counts in All Race (ExAC)
- 11026
- Heterozygous Counts in All Race (ExAC)
- 9546
- Homozygous Counts in All Race (ExAC)
- 740
- Allele Frequency in All Race (ExAC)
- 0.0910818133756278
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