rs2735383
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2735383(C;G) |
| Make rs2735383(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 89935041 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2735383 |
| dbSNP (classic) | rs2735383 |
| ClinGen | rs2735383 |
| ebi | rs2735383 |
| HLI | rs2735383 |
| Exac | rs2735383 |
| Gnomad | rs2735383 |
| Varsome | rs2735383 |
| LitVar | rs2735383 |
| Map | rs2735383 |
| PheGenI | rs2735383 |
| Biobank | rs2735383 |
| 1000 genomes | rs2735383 |
| hgdp | rs2735383 |
| ensembl | rs2735383 |
| geneview | rs2735383 |
| scholar | rs2735383 |
| rs2735383 | |
| pharmgkb | rs2735383 |
| gwascentral | rs2735383 |
| openSNP | rs2735383 |
| 23andMe | rs2735383 |
| SNPshot | rs2735383 |
| SNPdbe | rs2735383 |
| MSV3d | rs2735383 |
| GWAS Ctlg | rs2735383 |
| GMAF | 0.309 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[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 18638378] Analysis of variants in DNA damage signalling genes in bladder cancer.
[PMID 21166880] Functional polymorphisms in the NBS1 gene and acute lymphoblastic leukemia susceptibility in a Chinese population.
[PMID 22114071] A functional polymorphism at microRNA-629-binding site in the 3'-untranslated region of NBS1 gene confers an increased risk of lung cancer in Southern and Eastern Chinese population.
[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 26186548] Associations between NBS1 Polymorphisms and Colorectal Cancer in Chinese Population
| ClinVar | |
|---|---|
| Risk | rs2735383(G;G) |
| Alt | rs2735383(G;G) |
| Reference | Rs2735383(C;C) |
| Significance | Non-pathogenic |
| Disease | Microcephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | Microcephaly, normal intelligence and immunodeficiency |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90947269C>G |
| CLNSRC | |
| CLNACC | RCV000272651.1, |
[PMID 29024686] Increased age-adjusted hazard of death associated with a common single nucleotide polymorphism of the human RAD52 gene in a cardiovascular cohort.
