chr2:238147187:G>T Detail (hg38) (KLHL30)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:239,055,828-239,055,828 View the variant detail on this assembly version. |
| hg38 | chr2:238,147,187-238,147,187 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_198582.3:c.1151-647G>T | |
| Ensemble | ENST00000409223.2:c.1151-647G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.911 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | 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 |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | The rs7602358G allele near PER2 was negatively associated with type 2 diabetes i... | BeFree | 22485135 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | The rs7602358G allele near PER2 was negatively associated with type 2 diabetes i... | BeFree | 22485135 | 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 |
| The rs7602358G allele near PER2 was negatively associated with type 2 diabetes in our Punjabi cohort... | DisGeNET | Detail |
| The rs7602358G allele near PER2 was negatively associated with type 2 diabetes in our Punjabi cohort... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7602358 dbSNP
- Genome
- hg38
- Position
- chr2:238,147,187-238,147,187
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs7602358
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.911
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15269
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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