rs199474748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.5 | Neurofibromatosis type 1 |
| (G;G) | 0 | common/normal |
| Make rs199474748(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 31229158 |
| Gene | NF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474748 |
| dbSNP (classic) | rs199474748 |
| ClinGen | rs199474748 |
| ebi | rs199474748 |
| HLI | rs199474748 |
| Exac | rs199474748 |
| Gnomad | rs199474748 |
| Varsome | rs199474748 |
| LitVar | rs199474748 |
| Map | rs199474748 |
| PheGenI | rs199474748 |
| Biobank | rs199474748 |
| 1000 genomes | rs199474748 |
| hgdp | rs199474748 |
| ensembl | rs199474748 |
| geneview | rs199474748 |
| scholar | rs199474748 |
| rs199474748 | |
| pharmgkb | rs199474748 |
| gwascentral | rs199474748 |
| openSNP | rs199474748 |
| 23andMe | rs199474748 |
| SNPshot | rs199474748 |
| SNPdbe | rs199474748 |
| MSV3d | rs199474748 |
| GWAS Ctlg | rs199474748 |
| Max Magnitude | 5.5 |
aka c.2543G>A or p.Gly848Glu
see NF1
