rs34767364
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34767364(C;T) |
| Make rs34767364(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 89971232 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34767364 |
| dbSNP (classic) | rs34767364 |
| ClinGen | rs34767364 |
| ebi | rs34767364 |
| HLI | rs34767364 |
| Exac | rs34767364 |
| Gnomad | rs34767364 |
| Varsome | rs34767364 |
| LitVar | rs34767364 |
| Map | rs34767364 |
| PheGenI | rs34767364 |
| Biobank | rs34767364 |
| 1000 genomes | rs34767364 |
| hgdp | rs34767364 |
| ensembl | rs34767364 |
| geneview | rs34767364 |
| scholar | rs34767364 |
| rs34767364 | |
| pharmgkb | rs34767364 |
| gwascentral | rs34767364 |
| openSNP | rs34767364 |
| 23andMe | rs34767364 |
| SNPshot | rs34767364 |
| SNPdbe | rs34767364 |
| MSV3d | rs34767364 |
| GWAS Ctlg | rs34767364 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34767364(G;G) rs34767364(T;T) |
| Alt | rs34767364(G;G) rs34767364(T;T) |
| Reference | Rs34767364(C;C) |
| Significance | Other |
| Disease | Microcephaly Hereditary cancer-predisposing syndrome not specified not provided |
| Variation | info |
| Gene | NBN |
| CLNDBN | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified not provided |
| Reversed | 1 |
| HGVS | NC_000008.10:g.90983460G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007363.9, RCV000115802.7, RCV000121621.3, RCV000487932.1, |
[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.
