chr16:13919809:A>C Detail (hg38) (ERCC4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:14,013,666-14,013,666 View the variant detail on this assembly version. |
| hg38 | chr16:13,919,809-13,919,809 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.250 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-07-17 | criteria provided, single submitter | Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F |
germline
|
Detail |
|
Benign
|
2023-07-17 | criteria provided, single submitter | Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F |
germline
|
Detail |
|
Benign
|
2023-07-17 | criteria provided, single submitter | Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Xeroderma pigmentosum, group F | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| 0.006 | colorectal cancer | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| <0.001 | colorectal carcinoma | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| 0.444 | Xeroderma pigmentosum, group F | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | This study was designed to investigate whether ERCC1 +262A/C and XPF -357A/C pol... | BeFree | 22374244 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000016.10:g.13919809A>C AND multiple conditions | ClinVar | Detail |
| NC_000016.10:g.13919809A>C AND multiple conditions | ClinVar | Detail |
| NC_000016.10:g.13919809A>C AND multiple conditions | ClinVar | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| This study was designed to investigate whether ERCC1 +262A/C and XPF -357A/C polymorphisms affect in... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6498486 dbSNP
- Genome
- hg38
- Position
- chr16:13,919,809-13,919,809
- 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))
- rs6498486
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2496
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4184
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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