chr17:8144692:C>A Detail (hg38) (PER1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:8,048,010-8,048,010 View the variant detail on this assembly version. |
| hg38 | chr17:8,144,692-8,144,692 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002616.2:c.2461+59G>T | |
| Ensemble | ENST00000317276.9:c.2461+59G>T | |
| ENST00000354903.9:c.2472G>T | ENST00000354903.9:p.Trp824Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.020 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.082 |
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 |
|---|---|---|---|---|---|
| <0.001 | Glioma | A variant in PER1 (rs2289591) was significantly associated with overall glioma r... | BeFree | 24135790 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.005 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.003 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.005 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.006 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.005 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.003 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.003 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| 0.003 | Malignant neoplasm of prostate | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
| <0.001 | prostate carcinoma | Our results showed that at least one SNP in nine core circadian genes (rs885747 ... | BeFree | 19934327 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A variant in PER1 (rs2289591) was significantly associated with overall glioma risk (per variant all... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | DisGeNET | Detail |
| Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... | 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
- rs2289591 dbSNP
- Genome
- hg38
- Position
- chr17:8,144,692-8,144,692
- 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))
- rs2289591
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0202
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 338
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 364
- East Asian Allele Counts (ExAC)
- 30
- East Asian Heterozygous Counts (ExAC)
- 28
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.08241758241758242
- Chromosome Counts in All Race (ExAC)
- 14952
- Allele Counts in All Race (ExAC)
- 2966
- Heterozygous Counts in All Race (ExAC)
- 2346
- Homozygous Counts in All Race (ExAC)
- 310
- Allele Frequency in All Race (ExAC)
- 0.1983681112894596
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