rs1805794
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1805794(C;G) |
| Make rs1805794(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 89978251 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805794 |
| dbSNP (classic) | rs1805794 |
| ClinGen | rs1805794 |
| ebi | rs1805794 |
| HLI | rs1805794 |
| Exac | rs1805794 |
| Gnomad | rs1805794 |
| Varsome | rs1805794 |
| LitVar | rs1805794 |
| Map | rs1805794 |
| PheGenI | rs1805794 |
| Biobank | rs1805794 |
| 1000 genomes | rs1805794 |
| hgdp | rs1805794 |
| ensembl | rs1805794 |
| geneview | rs1805794 |
| scholar | rs1805794 |
| rs1805794 | |
| pharmgkb | rs1805794 |
| gwascentral | rs1805794 |
| openSNP | rs1805794 |
| 23andMe | rs1805794 |
| SNPshot | rs1805794 |
| SNPdbe | rs1805794 |
| MSV3d | rs1805794 |
| GWAS Ctlg | rs1805794 |
| GMAF | 0.3329 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20150366
] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 21656575] Functional NBS1 polymorphism is associated with occurrence and advanced disease status of nasopharyngeal carcinoma
[PMID 22070649] Genetic Variation in the NBS1 Gene Is Associated with Hepatic Cancer risk in a Chinese Population
[PMID 21129811] Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer
[PMID 22631660] Genetic Variants of NBS1 Predict Clinical Outcome of Platinum-based Chemotherapy in Advanced Non-small Cell Lung Cancer in Chinese
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18579371] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
[PMID 18638378] Analysis of variants in DNA damage signalling genes in bladder cancer.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18768505] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19393077] Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis.
[PMID 19523210] Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
[PMID 19584272] Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 20004634] Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.
[PMID 20386703] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.
[PMID 20571895] The NBS1 genetic polymorphisms and the risk of the systemic lupus erythematosus in Taiwanese patients.
[PMID 20805886] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
[PMID 21166880] Functional polymorphisms in the NBS1 gene and acute lymphoblastic leukemia susceptibility in a Chinese population.
[PMID 22413803] DNA Repair System and Prostate Cancer Progression: The Role of NBS1 Polymorphism (rs1805794).
[PMID 22430443] Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.
[PMID 23979977] NBS1 Glu185Gln polymorphism and cancer risk: update on current evidence
[PMID 24113799] Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies
[PMID 23283743] NBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population.
[PMID 23381647] Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis.
[PMID 25073514] NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-analysis
[PMID 25176580] NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia
| ClinVar | |
|---|---|
| Risk | rs1805794(G;G) |
| Alt | rs1805794(G;G) |
| Reference | Rs1805794(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Hereditary cancer-predisposing syndrome Microcephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90990479C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000121620.3, RCV000162358.2, RCV000374656.1, |
[PMID 26493193] DNA repair system and renal cell carcinoma prognosis: under the influence of NBS1
[PMID 26514363] Genetic variations in the homologous recombination repair pathway genes modify risk of glioma
[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.
