chr2:217066637:G>A Detail (hg19) (XRCC5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:217,066,637-217,066,637 |
hg38 | chr2:216,201,914-216,201,914 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_021141.3:c.2110-2408G>A | |
Ensemble | ENST00000392132.7:c.2110-2408G>A | |
ENST00000392133.7:c.2110-2408G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.074 | |
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 |
---|---|---|---|---|---|
0.015 | Malignant neoplasm of breast | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... | BeFree | 23098447 | Detail |
0.003 | breast carcinoma | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... | BeFree | 23098447 | Detail |
<0.001 | Non-small cell lung carcinoma | Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-mat... | BeFree | 19408343 | Detail |
0.001 | Non-small cell lung carcinoma | Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-mat... | BeFree | 19408343 | Detail |
0.001 | Non-small cell lung carcinoma | The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... | BeFree | 21717429 | Detail |
<0.001 | Non-small cell lung carcinoma | The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... | BeFree | 21717429 | Detail |
<0.001 | Non-small cell lung carcinoma | The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... | BeFree | 21717429 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g... | DisGeNET | Detail |
This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g... | DisGeNET | Detail |
Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 1... | DisGeNET | Detail |
Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 1... | DisGeNET | Detail |
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... | DisGeNET | Detail |
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... | DisGeNET | Detail |
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3835 dbSNP
- Genome
- hg19
- Position
- chr2:217,066,637-217,066,637
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs3835
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0736
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1233
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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