rs1063054
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1063054(A;C) |
| Make rs1063054(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 89934373 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1063054 |
| dbSNP (classic) | rs1063054 |
| ClinGen | rs1063054 |
| ebi | rs1063054 |
| HLI | rs1063054 |
| Exac | rs1063054 |
| Gnomad | rs1063054 |
| Varsome | rs1063054 |
| LitVar | rs1063054 |
| Map | rs1063054 |
| PheGenI | rs1063054 |
| Biobank | rs1063054 |
| 1000 genomes | rs1063054 |
| hgdp | rs1063054 |
| ensembl | rs1063054 |
| geneview | rs1063054 |
| scholar | rs1063054 |
| rs1063054 | |
| pharmgkb | rs1063054 |
| gwascentral | rs1063054 |
| openSNP | rs1063054 |
| 23andMe | rs1063054 |
| SNPshot | rs1063054 |
| SNPdbe | rs1063054 |
| MSV3d | rs1063054 |
| GWAS Ctlg | rs1063054 |
| GMAF | 0.315 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 24113799] Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies
[PMID 18638378
] Analysis of variants in DNA damage signalling genes in bladder cancer.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 20478923] Associations between NBS1 polymorphisms, haplotypes and smoking-related cancers.
[PMID 25176580] NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia
| ClinVar | |
|---|---|
| Risk | rs1063054(C;C) |
| Alt | rs1063054(C;C) |
| Reference | Rs1063054(A;A) |
| Significance | Non-pathogenic |
| Disease | Microcephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | Microcephaly, normal intelligence and immunodeficiency |
| Reversed | 1 |
| HGVS | NC_000008.10:g.90946601T>G |
| CLNSRC | |
| CLNACC | RCV000366927.1, |
