rs587776562
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 7.5 | Neurofibromatosis, type 2 |
| Make rs587776562(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 29636877 |
| Gene | NF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776562 |
| dbSNP (classic) | rs587776562 |
| ClinGen | rs587776562 |
| ebi | rs587776562 |
| HLI | rs587776562 |
| Exac | rs587776562 |
| Gnomad | rs587776562 |
| Varsome | rs587776562 |
| LitVar | rs587776562 |
| Map | rs587776562 |
| PheGenI | rs587776562 |
| Biobank | rs587776562 |
| 1000 genomes | rs587776562 |
| hgdp | rs587776562 |
| ensembl | rs587776562 |
| geneview | rs587776562 |
| scholar | rs587776562 |
| rs587776562 | |
| pharmgkb | rs587776562 |
| gwascentral | rs587776562 |
| openSNP | rs587776562 |
| 23andMe | rs587776562 |
| SNPshot | rs587776562 |
| SNPdbe | rs587776562 |
| MSV3d | rs587776562 |
| GWAS Ctlg | rs587776562 |
| Max Magnitude | 7.5 |
This mutation in the NF2 gene is also known as c.240+1G>T, and it is considered pathogenic for neurofibromatosis, type 2.
| ClinVar | |
|---|---|
| Risk | rs587776562(T;T) |
| Alt | rs587776562(T;T) |
| Reference | Rs587776562(G;G) |
| Significance | Pathogenic |
| Disease | Neurofibromatosis |
| Variation | info |
| Gene | NF2 |
| CLNDBN | Neurofibromatosis, type 2 |
| Reversed | 0 |
| HGVS | NC_000022.10:g.30032866G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003444.2, |
