rs10131
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (A;G) | ||
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 108207498 |
| Gene | LIG4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10131 |
| dbSNP (classic) | rs10131 |
| ClinGen | rs10131 |
| ebi | rs10131 |
| HLI | rs10131 |
| Exac | rs10131 |
| Gnomad | rs10131 |
| Varsome | rs10131 |
| LitVar | rs10131 |
| Map | rs10131 |
| PheGenI | rs10131 |
| Biobank | rs10131 |
| 1000 genomes | rs10131 |
| hgdp | rs10131 |
| ensembl | rs10131 |
| geneview | rs10131 |
| scholar | rs10131 |
| rs10131 | |
| pharmgkb | rs10131 |
| gwascentral | rs10131 |
| openSNP | rs10131 |
| 23andMe | rs10131 |
| SNPshot | rs10131 |
| SNPdbe | rs10131 |
| MSV3d | rs10131 |
| GWAS Ctlg | rs10131 |
| GMAF | 0.1143 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20386703
]Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer PMC2851649
[PMID 27508978] Genetic effects of XRCC4 and ligase IV genes on human glioma.
| ClinVar | |
|---|---|
| Risk | Rs10131(A;A) |
| Alt | Rs10131(A;A) |
| Reference | Rs10131(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Lig4 syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation |
| Variation | info |
| Gene | LIG4 |
| CLNDBN | Lig4 syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation |
| Reversed | 1 |
| HGVS | NC_000013.10:g.108859846C>T |
| CLNSRC | |
| CLNACC | RCV000299250.1, RCV000393586.1, |
