chr8:47858141:C>A Detail (hg38) (PRKDC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:48,770,702-48,770,702 View the variant detail on this assembly version. |
| hg38 | chr8:47,858,141-47,858,141 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006904.6:c.6465+375G>T | |
| NM_001081640.1:c.6465+375G>T | ||
| Ensemble | ENST00000314191.7:c.6465+375G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.766 | |
| 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 | Leukoplakia | Two SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-valu... | BeFree | 23437280 | Detail |
| <0.001 | Leukoplakia | Two SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-valu... | BeFree | 23437280 | Detail |
| 0.008 | liver carcinoma | In this study, we investigated whether six polymorphisms (including rs25487, rs8... | BeFree | 25337275 | Detail |
| <0.001 | Carcinoma of bladder | We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases a... | BeFree | 19815090 | Detail |
| 0.004 | glioblastoma | A 44% increase in risk for glioblastoma multiforme was found for individuals hom... | BeFree | 19318434 | Detail |
| 0.001 | prostate carcinoma | In summary, the current meta-analysis confirmed that the rs7003908 polymorphism ... | BeFree | 24535266 | Detail |
| 0.006 | Malignant neoplasm of prostate | This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to ... | BeFree | 23108991 | Detail |
| <0.001 | Glioblastoma multiforme | A 44% increase in risk for glioblastoma multiforme was found for individuals hom... | BeFree | 19318434 | Detail |
| 0.006 | Malignant neoplasm of prostate | In summary, the current meta-analysis confirmed that the rs7003908 polymorphism ... | BeFree | 24535266 | Detail |
| 0.001 | prostate carcinoma | This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to ... | BeFree | 23108991 | Detail |
| <0.001 | Malignant neoplasm of urinary bladder | We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases a... | BeFree | 19815090 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were fo... | DisGeNET | Detail |
| Two SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were fo... | DisGeNET | Detail |
| In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs... | DisGeNET | Detail |
| We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases and 250 controls to i... | DisGeNET | Detail |
| A 44% increase in risk for glioblastoma multiforme was found for individuals homozygous for the G al... | DisGeNET | Detail |
| In summary, the current meta-analysis confirmed that the rs7003908 polymorphism in the XRCC7 gene mi... | DisGeNET | Detail |
| This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to cancer susceptibilit... | DisGeNET | Detail |
| A 44% increase in risk for glioblastoma multiforme was found for individuals homozygous for the G al... | DisGeNET | Detail |
| In summary, the current meta-analysis confirmed that the rs7003908 polymorphism in the XRCC7 gene mi... | DisGeNET | Detail |
| This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to cancer susceptibilit... | DisGeNET | Detail |
| We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases and 250 controls to i... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7003908 dbSNP
- Genome
- hg38
- Position
- chr8:47,858,141-47,858,141
- 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))
- rs7003908
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7655
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12829
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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