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rs1805794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1805794(C;G)
Make rs1805794(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position89978251
GeneNBN
is asnp
is mentioned by
dbSNPrs1805794
ebirs1805794
HLIrs1805794
Exacrs1805794
Varsomers1805794
Maprs1805794
PheGenIrs1805794
hapmaprs1805794
1000 genomesrs1805794
hgdprs1805794
ensemblrs1805794
gopubmedrs1805794
geneviewrs1805794
scholarrs1805794
googlers1805794
pharmgkbrs1805794
gwascentralrs1805794
openSNPrs1805794
23andMers1805794
23andMe allrs1805794
SNP Nexus

SNPshotrs1805794
SNPdbers1805794
MSV3drs1805794
GWAS Ctlgrs1805794
GMAF0.3329
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
NBN-E185Q
aa_change Glu185Gln
aa_change_short E185Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.284718
summary



[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
Variation info
Gene NBN
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000008.10:g.90990479C>G
CLNSRC Inc.
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.