chr11:45877688:C>G Detail (hg19) (CRY2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:45,877,688-45,877,688 |
| hg38 | chr11:45,856,137-45,856,137 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127457.2:c.141+47C>G | |
| NM_021117.3:c.387+47C>G | ||
| Ensemble | ENST00000417225.6:c.141+47C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.326 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.367 |
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 | 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 |
|---|---|---|
| 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
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2292912 dbSNP
- Genome
- hg19
- Position
- chr11:45,877,688-45,877,688
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs2292912
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3262
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5466
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8596
- East Asian Allele Counts (ExAC)
- 3152
- East Asian Heterozygous Counts (ExAC)
- 2040
- East Asian Homozygous Counts (ExAC)
- 556
- East Asian Allele Frequency (ExAC)
- 0.36668217775709633
- Chromosome Counts in All Race (ExAC)
- 120696
- Allele Counts in All Race (ExAC)
- 83036
- Heterozygous Counts in All Race (ExAC)
- 22322
- Homozygous Counts in All Race (ExAC)
- 30357
- Allele Frequency in All Race (ExAC)
- 0.6879764035262146
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