rs1805388
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | reduced risk of multiple myeloma |
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.2 | 1.5x reduced risk of multiple myeloma |
| Make rs1805388(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 108211243 |
| Gene | LIG4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805388 |
| dbSNP (classic) | rs1805388 |
| ClinGen | rs1805388 |
| ebi | rs1805388 |
| HLI | rs1805388 |
| Exac | rs1805388 |
| Gnomad | rs1805388 |
| Varsome | rs1805388 |
| LitVar | rs1805388 |
| Map | rs1805388 |
| PheGenI | rs1805388 |
| Biobank | rs1805388 |
| 1000 genomes | rs1805388 |
| hgdp | rs1805388 |
| ensembl | rs1805388 |
| geneview | rs1805388 |
| scholar | rs1805388 |
| rs1805388 | |
| pharmgkb | rs1805388 |
| gwascentral | rs1805388 |
| openSNP | rs1805388 |
| 23andMe | rs1805388 |
| SNPshot | rs1805388 |
| SNPdbe | rs1805388 |
| MSV3d | rs1805388 |
| GWAS Ctlg | rs1805388 |
| GMAF | 0.1538 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19408343] Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study
[PMID 19604268
] Association between total immunoglobulin E and antibody responses to naturally acquired Ascaris lumbricoides infection and polymorphisms of immune system-related LIG4, TNFSF13B and IRS2 genes
[PMID 21717429] Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy
[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.
| ClinVar | |
|---|---|
| Risk | rs1805388(T;T) |
| Alt | rs1805388(T;T) |
| Reference | Rs1805388(C;C) |
| Significance | Other |
| Disease | Multiple myeloma not specified Lig4 syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation |
| Variation | info |
| Gene | LIG4 |
| CLNDBN | Multiple myeloma, resistance to not specified Lig4 syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation |
| Reversed | 1 |
| HGVS | NC_000013.10:g.108863591G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008116.3, RCV000126631.2, RCV000325082.1, RCV000382071.1, |
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[PMID 18579371] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
[PMID 18768505] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
[PMID 18796628] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 23075580] Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients
[PMID 23936089] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
[PMID 23630330] Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.
[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.
[PMID 27508978] Genetic effects of XRCC4 and ligase IV genes on human glioma.
