rs1060503667
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 7.5 | Neurofibromatosis, type 2 |
| Make rs1060503667(G;G) |
| Chromosome | 22 |
| Position | 29642270 |
| Gene | NF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1060503667 |
| dbSNP (classic) | rs1060503667 |
| ClinGen | rs1060503667 |
| ebi | rs1060503667 |
| HLI | rs1060503667 |
| Exac | rs1060503667 |
| Gnomad | rs1060503667 |
| Varsome | rs1060503667 |
| LitVar | rs1060503667 |
| Map | rs1060503667 |
| PheGenI | rs1060503667 |
| Biobank | rs1060503667 |
| 1000 genomes | rs1060503667 |
| hgdp | rs1060503667 |
| ensembl | rs1060503667 |
| geneview | rs1060503667 |
| scholar | rs1060503667 |
| rs1060503667 | |
| pharmgkb | rs1060503667 |
| gwascentral | rs1060503667 |
| openSNP | rs1060503667 |
| 23andMe | rs1060503667 |
| SNPshot | rs1060503667 |
| SNPdbe | rs1060503667 |
| MSV3d | rs1060503667 |
| GWAS Ctlg | rs1060503667 |
| Max Magnitude | 7.5 |
NM_000268.3(NF2):c.432C>G (p.Tyr144Ter)
| ClinVar | |
|---|---|
| Risk | rs1060503667(G;G) |
| Alt | rs1060503667(G;G) |
| Reference | Rs1060503667(C;C) |
| Significance | Pathogenic |
| Disease | Neurofibromatosis |
| Variation | info |
| Gene | NF2 |
| CLNDBN | Neurofibromatosis, type 2 |
| Reversed | 0 |
| HGVS | NC_000022.10:g.30038259C>G |
| CLNSRC | |
| CLNACC | RCV000462897.1, |
