chr3:41242338:C>A Detail (hg19) (CTNNB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:41,242,338-41,242,338 |
| hg38 | chr3:41,200,847-41,200,847 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001904.3:c.-49+1177C>A | |
| NM_001098210.1:c.-49+1177C>A | ||
| NM_001098209.1:c.-49+1177C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.224 | |
| 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
- rs4533622 dbSNP
- Genome
- hg19
- Position
- chr3:41,242,338-41,242,338
- 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))
- rs4533622
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2242
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3758
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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