chr3:37969217:T>C Detail (hg38) (CTDSPL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:38,010,708-38,010,708 View the variant detail on this assembly version. |
| hg38 | chr3:37,969,217-37,969,217 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001008392.1:c.426+1335T>C | |
| NM_005808.2:c.393+1335T>C | ||
| Ensemble | ENST00000273179.10:c.426+1335T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.728 | |
| 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 | Non-small cell lung carcinoma | Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs65051... | BeFree | 22818121 | Detail |
| <0.001 | Malignant tumor of cervix | We did not detect any association of the other two SNPs in pri-miR-26a-1 (rs7372... | BeFree | 24380734 | Detail |
| <0.001 | cervix carcinoma | We did not detect any association of the other two SNPs in pri-miR-26a-1 (rs7372... | BeFree | 24380734 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs6505162/miR-423, rs228903... | DisGeNET | Detail |
| We did not detect any association of the other two SNPs in pri-miR-26a-1 (rs7372209) and pri-miR-100... | DisGeNET | Detail |
| We did not detect any association of the other two SNPs in pri-miR-26a-1 (rs7372209) and pri-miR-100... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7372209 dbSNP
- Genome
- hg38
- Position
- chr3:37,969,217-37,969,217
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs7372209
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7278
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12198
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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