rs745663149
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs745663149(C;T) |
| Make rs745663149(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 74360199 |
| Gene | GDAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs745663149 |
| dbSNP (classic) | rs745663149 |
| ClinGen | rs745663149 |
| ebi | rs745663149 |
| HLI | rs745663149 |
| Exac | rs745663149 |
| Gnomad | rs745663149 |
| Varsome | rs745663149 |
| LitVar | rs745663149 |
| Map | rs745663149 |
| PheGenI | rs745663149 |
| Biobank | rs745663149 |
| 1000 genomes | rs745663149 |
| hgdp | rs745663149 |
| ensembl | rs745663149 |
| geneview | rs745663149 |
| scholar | rs745663149 |
| rs745663149 | |
| pharmgkb | rs745663149 |
| gwascentral | rs745663149 |
| openSNP | rs745663149 |
| 23andMe | rs745663149 |
| SNPshot | rs745663149 |
| SNPdbe | rs745663149 |
| MSV3d | rs745663149 |
| GWAS Ctlg | rs745663149 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs745663149(T;T) |
| Alt | rs745663149(T;T) |
| Reference | Rs745663149(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | GDAP1 |
| CLNDBN | Charcot-Marie-Tooth disease, type 4A |
| Reversed | 0 |
| HGVS | NC_000008.10:g.75272434C>T |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000201184.1, |
