chr17:65553143:T>C Detail (hg38) (AXIN2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:63,549,261-63,549,261 View the variant detail on this assembly version. |
| hg38 | chr17:65,553,143-65,553,143 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004655.3:c.816-3483A>G | |
| Ensemble | ENST00000307078.10:c.816-3483A>G | |
| ENST00000375702.5:c.816-3483A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.337 | |
| 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 |
|---|---|---|---|---|---|
| 0.201 | Malignant neoplasm of ovary | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
| 0.280 | Malignant neoplasm of ovary | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
| <0.001 | ovarian carcinoma | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
| 0.003 | Malignant neoplasm of ovary | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
| 0.002 | ovarian carcinoma | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
| 0.082 | ovarian carcinoma | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... | BeFree | 24078348 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
| We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3923087 dbSNP
- Genome
- hg38
- Position
- chr17:65,553,143-65,553,143
- 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))
- rs3923087
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3371
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5649
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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