rs587781933
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;A) | 5.5 | Neurofibromatosis type 1 |
| Make rs587781933(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 31229237 |
| Gene | NF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587781933 |
| dbSNP (classic) | rs587781933 |
| ClinGen | rs587781933 |
| ebi | rs587781933 |
| HLI | rs587781933 |
| Exac | rs587781933 |
| Gnomad | rs587781933 |
| Varsome | rs587781933 |
| LitVar | rs587781933 |
| Map | rs587781933 |
| PheGenI | rs587781933 |
| Biobank | rs587781933 |
| 1000 genomes | rs587781933 |
| hgdp | rs587781933 |
| ensembl | rs587781933 |
| geneview | rs587781933 |
| scholar | rs587781933 |
| rs587781933 | |
| pharmgkb | rs587781933 |
| gwascentral | rs587781933 |
| openSNP | rs587781933 |
| 23andMe | rs587781933 |
| SNPshot | rs587781933 |
| SNPdbe | rs587781933 |
| MSV3d | rs587781933 |
| GWAS Ctlg | rs587781933 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs587781933(A;A) |
| Alt | rs587781933(A;A) |
| Reference | Rs587781933(-;-) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | NF1 |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000017.10:g.29556255_29556256insA |
| CLNSRC | |
| CLNACC | RCV000130296.2, |
