chr1:39896394:C>A Detail (hg38) (MYCL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:40,362,066-40,362,066 View the variant detail on this assembly version. |
| hg38 | chr1:39,896,394-39,896,394 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001033081.2:c.*978G>T | |
| NM_001033082.2:c.*978G>T | ||
| Ensemble | ENST00000372816.3:c.*978G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.022 | |
| 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 |
|---|---|---|---|---|---|
| 0.011 | Malignant neoplasm of lung | Polymorphisms of miRNA-196a2 rs11614913 and MYCL1 rs3134615 could be potential b... | BeFree | 23613771 | Detail |
| 0.001 | Carcinoma of lung | Polymorphisms of miRNA-196a2 rs11614913 and MYCL1 rs3134615 could be potential b... | BeFree | 23613771 | Detail |
| <0.001 | breast carcinoma | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | breast carcinoma | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | Malignant neoplasm of breast | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| 0.009 | breast carcinoma | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | breast carcinoma | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | Malignant neoplasm of breast | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | breast carcinoma | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| 0.049 | Malignant neoplasm of breast | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| 0.005 | Malignant neoplasm of breast | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
| <0.001 | Malignant neoplasm of breast | Five miRNA binding site SNPs associated significantly with breast cancer risk: r... | BeFree | 25390939 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Polymorphisms of miRNA-196a2 rs11614913 and MYCL1 rs3134615 could be potential biomarkers of lung ca... | DisGeNET | Detail |
| Polymorphisms of miRNA-196a2 rs11614913 and MYCL1 rs3134615 could be potential biomarkers of lung ca... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | DisGeNET | Detail |
| Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... | 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
- rs3134615 dbSNP
- Genome
- hg38
- Position
- chr1:39,896,394-39,896,394
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs3134615
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0224
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 375
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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