rs730881857
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs730881857(C;G) |
| Make rs730881857(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 89943320 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730881857 |
| dbSNP (classic) | rs730881857 |
| ClinGen | rs730881857 |
| ebi | rs730881857 |
| HLI | rs730881857 |
| Exac | rs730881857 |
| Gnomad | rs730881857 |
| Varsome | rs730881857 |
| LitVar | rs730881857 |
| Map | rs730881857 |
| PheGenI | rs730881857 |
| Biobank | rs730881857 |
| 1000 genomes | rs730881857 |
| hgdp | rs730881857 |
| ensembl | rs730881857 |
| geneview | rs730881857 |
| scholar | rs730881857 |
| rs730881857 | |
| pharmgkb | rs730881857 |
| gwascentral | rs730881857 |
| openSNP | rs730881857 |
| 23andMe | rs730881857 |
| SNPshot | rs730881857 |
| SNPdbe | rs730881857 |
| MSV3d | rs730881857 |
| GWAS Ctlg | rs730881857 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730881857(G;G) |
| Alt | rs730881857(G;G) |
| Reference | Rs730881857(C;C) |
| Significance | Other |
| Disease | Hereditary cancer-predisposing syndrome not provided Microcephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided Microcephaly, normal intelligence and immunodeficiency |
| Reversed | 1 |
| HGVS | NC_000008.10:g.90955548G>C |
| CLNSRC | |
| CLNACC | RCV000160795.5, RCV000212754.1, RCV000409031.1, |
