chr8:127112671:C>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:128,124,916-128,124,916 View the variant detail on this assembly version. |
| hg38 | chr8:127,112,671-127,112,671 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.186 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.020 | Malignant neoplasm of prostate | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
| 0.012 | prostate carcinoma | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
| <0.001 | Malignant neoplasm of prostate | Two of these 17 SNPs, located at 3p12, and region 2 at 8q24, were significantly ... | BeFree | 19549807 | Detail |
| <0.001 | prostate carcinoma | Two of these 17 SNPs, located at 3p12, and region 2 at 8q24, were significantly ... | BeFree | 19549807 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
| Two of these 17 SNPs, located at 3p12, and region 2 at 8q24, were significantly associated with pros... | DisGeNET | Detail |
| Two of these 17 SNPs, located at 3p12, and region 2 at 8q24, were significantly associated with pros... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs16901979 dbSNP
- Genome
- hg38
- Position
- chr8:127,112,671-127,112,671
- 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))
- rs16901979
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1856
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3111
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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