chr8:127472793:A>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:128,485,038-128,485,038 View the variant detail on this assembly version. |
| hg38 | chr8:127,472,793-127,472,793 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.831 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | age related macular degeneration | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genome-wide association and replication studies identify four variants associate... | GWASCAT | 19767754 | Detail |
| 0.019 | Prostatic Neoplasms | [Genome-wide association and replication studies identify four variants associat... | GAD | 19767754 | Detail |
| 0.016 | atherosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.020 | Malignant neoplasm of prostate | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
| 0.002 | arteriosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.001 | arteriosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genome-wide association study identifies a second prostate cancer susceptibility... | GWASCAT | 17401366 | Detail |
| 0.480 | age related macular degeneration | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genome-wide association study of prostate cancer identifies a second risk locus ... | GWASCAT | 17401363 | Detail |
| 0.019 | Prostatic Neoplasms | [Genome-wide association study identifies a second prostate cancer susceptibilit... | GAD | 17401366 | Detail |
| 0.011 | atherosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.002 | arteriosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.404 | age related macular degeneration | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.011 | atherosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.011 | atherosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.019 | Prostatic Neoplasms | [Genome-wide association study of prostate cancer identifies a second risk locus... | GAD | 17401363 | Detail |
| 0.001 | arteriosclerosis | We investigated the prevalence of common polymorphisms that have been associated... | BeFree | 18248681 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genetic variation in prostate-specific antigen-detected prostate cancer and the ... | GWASCAT | 24753544 | Detail |
| 0.012 | prostate carcinoma | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| Genome-wide association and replication studies identify four variants associated with prostate canc... | DisGeNET | Detail |
| [Genome-wide association and replication studies identify four variants associated with prostate can... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. | DisGeNET | Detail |
| [Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.] | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| [Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.] | DisGeNET | Detail |
| We investigated the prevalence of common polymorphisms that have been associated with diseases, such... | DisGeNET | Detail |
| Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control se... | DisGeNET | Detail |
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1447295 dbSNP
- Genome
- hg38
- Position
- chr8:127,472,793-127,472,793
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs1447295
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8305
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13920
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser