rs199927590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199927590(A;G) |
| Make rs199927590(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 10797424 |
| Gene | DNM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199927590 |
| dbSNP (classic) | rs199927590 |
| ClinGen | rs199927590 |
| ebi | rs199927590 |
| HLI | rs199927590 |
| Exac | rs199927590 |
| Gnomad | rs199927590 |
| Varsome | rs199927590 |
| LitVar | rs199927590 |
| Map | rs199927590 |
| PheGenI | rs199927590 |
| Biobank | rs199927590 |
| 1000 genomes | rs199927590 |
| hgdp | rs199927590 |
| ensembl | rs199927590 |
| geneview | rs199927590 |
| scholar | rs199927590 |
| rs199927590 | |
| pharmgkb | rs199927590 |
| gwascentral | rs199927590 |
| openSNP | rs199927590 |
| 23andMe | rs199927590 |
| SNPshot | rs199927590 |
| SNPdbe | rs199927590 |
| MSV3d | rs199927590 |
| GWAS Ctlg | rs199927590 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199927590(G;G) |
| Alt | rs199927590(G;G) |
| Reference | Rs199927590(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | DNM2 |
| CLNDBN | Charcot-Marie-Tooth disease |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10908100A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000144864.1, |
