chr2:186678500:G>C Detail (hg38) (ITGAV)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:187,543,227-187,543,227 View the variant detail on this assembly version. |
| hg38 | chr2:186,678,500-186,678,500 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002210.4:c.*1208G>C | |
| NM_001145000.2:c.*1208G>C | ||
| Ensemble | ENST00000261023.8:c.*1208G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.089 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | Neoplasm Metastasis | The following factors resulted independently associated with peritoneal carcinos... | BeFree | 20926544 | Detail |
| <0.001 | prostate carcinoma | The ITGAv gene SNP rs11902171 may be potentially associated with the risk of pro... | BeFree | 23065910 | Detail |
| <0.001 | Malignant neoplasm of prostate | The ITGAv gene SNP rs11902171 may be potentially associated with the risk of pro... | BeFree | 23065910 | Detail |
| <0.001 | Carcinomatosis | Tumor histology represents a crucial issue conditioning tumoral behavior; genoty... | BeFree | 20926544 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The following factors resulted independently associated with peritoneal carcinosis or hematogenous m... | DisGeNET | Detail |
| The ITGAv gene SNP rs11902171 may be potentially associated with the risk of prostate cancer. | DisGeNET | Detail |
| The ITGAv gene SNP rs11902171 may be potentially associated with the risk of prostate cancer. | DisGeNET | Detail |
| Tumor histology represents a crucial issue conditioning tumoral behavior; genotyping of rs2269772 (I... | 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
- rs11902171 dbSNP
- Genome
- hg38
- Position
- chr2:186,678,500-186,678,500
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs11902171
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0887
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1486
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser