rs139808557
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs139808557(A;A) |
| Make rs139808557(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 74360225 |
| Gene | GDAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139808557 |
| dbSNP (classic) | rs139808557 |
| ClinGen | rs139808557 |
| ebi | rs139808557 |
| HLI | rs139808557 |
| Exac | rs139808557 |
| Gnomad | rs139808557 |
| Varsome | rs139808557 |
| LitVar | rs139808557 |
| Map | rs139808557 |
| PheGenI | rs139808557 |
| Biobank | rs139808557 |
| 1000 genomes | rs139808557 |
| hgdp | rs139808557 |
| ensembl | rs139808557 |
| geneview | rs139808557 |
| scholar | rs139808557 |
| rs139808557 | |
| pharmgkb | rs139808557 |
| gwascentral | rs139808557 |
| openSNP | rs139808557 |
| 23andMe | rs139808557 |
| SNPshot | rs139808557 |
| SNPdbe | rs139808557 |
| MSV3d | rs139808557 |
| GWAS Ctlg | rs139808557 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139808557(A;A) |
| Alt | rs139808557(A;A) |
| Reference | Rs139808557(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | GDAP1 |
| CLNDBN | not specified Charcot-Marie-Tooth disease, type 4A |
| Reversed | 0 |
| HGVS | NC_000008.10:g.75272460G>A |
| CLNSRC | |
| CLNACC | RCV000236408.2, RCV000474009.1, |
