rs752135284
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTG;CTG) | 0 | common in clinvar |
| Make rs752135284(-;-) |
| Make rs752135284(-;CTG) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 63944682 |
| Gene | SCN4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752135284 |
| dbSNP (classic) | rs752135284 |
| ClinGen | rs752135284 |
| ebi | rs752135284 |
| HLI | rs752135284 |
| Exac | rs752135284 |
| Gnomad | rs752135284 |
| Varsome | rs752135284 |
| LitVar | rs752135284 |
| Map | rs752135284 |
| PheGenI | rs752135284 |
| Biobank | rs752135284 |
| 1000 genomes | rs752135284 |
| hgdp | rs752135284 |
| ensembl | rs752135284 |
| geneview | rs752135284 |
| scholar | rs752135284 |
| rs752135284 | |
| pharmgkb | rs752135284 |
| gwascentral | rs752135284 |
| openSNP | rs752135284 |
| 23andMe | rs752135284 |
| SNPshot | rs752135284 |
| SNPdbe | rs752135284 |
| MSV3d | rs752135284 |
| GWAS Ctlg | rs752135284 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752135284(-;-) |
| Alt | rs752135284(-;-) |
| Reference | Rs752135284(CTG;CTG) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SCN4A |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.62022042_62022044delCTG |
| CLNSRC | |
| CLNACC | RCV000415927.1, |
