chr3:37954986:T>G Detail (hg38) (CTDSPL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,996,477-37,996,477 View the variant detail on this assembly version. |
| hg38 | chr3:37,954,986-37,954,986 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001008392.1:c.235-2125T>G | |
| NM_005808.2:c.234+7775T>G | ||
| Ensemble | ENST00000273179.10:c.235-2125T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.037 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | Malignant neoplasm of prostate | The top SNP associations in GEE models for each trait were as follows: breast ca... | BeFree | 17903305 | Detail |
| 0.003 | Malignant neoplasm of prostate | [The top SNP associations in GEE models for each trait were as follows: breast c... | GAD | 17903305 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p =... | DisGeNET | Detail |
| [The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs9311171 dbSNP
- Genome
- hg38
- Position
- chr3:37,954,986-37,954,986
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs9311171
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0373
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 625
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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