rs863224875
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs863224875(-;-) |
| Make rs863224875(-;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 74350523 |
| Gene | GDAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224875 |
| dbSNP (classic) | rs863224875 |
| ClinGen | rs863224875 |
| ebi | rs863224875 |
| HLI | rs863224875 |
| Exac | rs863224875 |
| Gnomad | rs863224875 |
| Varsome | rs863224875 |
| LitVar | rs863224875 |
| Map | rs863224875 |
| PheGenI | rs863224875 |
| Biobank | rs863224875 |
| 1000 genomes | rs863224875 |
| hgdp | rs863224875 |
| ensembl | rs863224875 |
| geneview | rs863224875 |
| scholar | rs863224875 |
| rs863224875 | |
| pharmgkb | rs863224875 |
| gwascentral | rs863224875 |
| openSNP | rs863224875 |
| 23andMe | rs863224875 |
| SNPshot | rs863224875 |
| SNPdbe | rs863224875 |
| MSV3d | rs863224875 |
| GWAS Ctlg | rs863224875 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863224875(-;-) |
| Alt | rs863224875(-;-) |
| Reference | Rs863224875(A;A) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | GDAP1 |
| CLNDBN | Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, type 4A |
| Reversed | 0 |
| HGVS | NC_000008.10:g.75262758delA |
| CLNSRC | |
| CLNACC | RCV000196703.1, |
