rs142301194
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs142301194(A;C) |
| Make rs142301194(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 89937024 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142301194 |
| dbSNP (classic) | rs142301194 |
| ClinGen | rs142301194 |
| ebi | rs142301194 |
| HLI | rs142301194 |
| Exac | rs142301194 |
| Gnomad | rs142301194 |
| Varsome | rs142301194 |
| LitVar | rs142301194 |
| Map | rs142301194 |
| PheGenI | rs142301194 |
| Biobank | rs142301194 |
| 1000 genomes | rs142301194 |
| hgdp | rs142301194 |
| ensembl | rs142301194 |
| geneview | rs142301194 |
| scholar | rs142301194 |
| rs142301194 | |
| pharmgkb | rs142301194 |
| gwascentral | rs142301194 |
| openSNP | rs142301194 |
| 23andMe | rs142301194 |
| SNPshot | rs142301194 |
| SNPdbe | rs142301194 |
| MSV3d | rs142301194 |
| GWAS Ctlg | rs142301194 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142301194(C;C) |
| Alt | rs142301194(C;C) |
| Reference | Rs142301194(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | NBN |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90949252A>C |
| CLNSRC | |
| CLNACC | RCV000164379.1, |
