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From SNPedia

Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1805794(C;G)
Make rs1805794(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1805794
23andMe allrs1805794
SNP Nexus

GWAS Ctlgrs1805794
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 20150366OA-icon.png] 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 22070649OA-icon.png] 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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18579371OA-icon.png] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.

[PMID 18638378OA-icon.png] Analysis of variants in DNA damage signalling genes in bladder cancer.

[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18768505OA-icon.png] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.

[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.

[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

[PMID 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.

[PMID 19393077OA-icon.png] Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis.

[PMID 19523210OA-icon.png] 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 19584272OA-icon.png] Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

[PMID 19706757OA-icon.png] 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 20386703OA-icon.png] 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 20805886OA-icon.png] 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 22430443OA-icon.png] Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

GET Evidence
aa_change Glu185Gln
aa_change_short E185Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.284718

[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

Risk rs1805794(G;G)
Alt rs1805794(G;G)
Reference rs1805794(C;C)
Significance Non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome
Variation info
Gene NBN
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000008.10:g.90990479C>G
CLNACC RCV000121620.2, RCV000162358.2,

[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.