rs370115218
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs370115218(G;T) |
| Make rs370115218(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 149012634 |
| Gene | SH3TC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370115218 |
| dbSNP (classic) | rs370115218 |
| ClinGen | rs370115218 |
| ebi | rs370115218 |
| HLI | rs370115218 |
| Exac | rs370115218 |
| Gnomad | rs370115218 |
| Varsome | rs370115218 |
| LitVar | rs370115218 |
| Map | rs370115218 |
| PheGenI | rs370115218 |
| Biobank | rs370115218 |
| 1000 genomes | rs370115218 |
| hgdp | rs370115218 |
| ensembl | rs370115218 |
| geneview | rs370115218 |
| scholar | rs370115218 |
| rs370115218 | |
| pharmgkb | rs370115218 |
| gwascentral | rs370115218 |
| openSNP | rs370115218 |
| 23andMe | rs370115218 |
| SNPshot | rs370115218 |
| SNPdbe | rs370115218 |
| MSV3d | rs370115218 |
| GWAS Ctlg | rs370115218 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370115218(A;A) rs370115218(T;T) |
| Alt | rs370115218(A;A) rs370115218(T;T) |
| Reference | Rs370115218(G;G) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | SH3TC2 |
| CLNDBN | Charcot-Marie-Tooth disease, type IV |
| Reversed | 0 |
| HGVS | NC_000005.9:g.148392197G>A |
| CLNSRC | |
| CLNACC | RCV000204837.1, |
