rs527236150
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs527236150(C;T) |
| Make rs527236150(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 63947082 |
| Gene | SCN4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs527236150 |
| dbSNP (classic) | rs527236150 |
| ClinGen | rs527236150 |
| ebi | rs527236150 |
| HLI | rs527236150 |
| Exac | rs527236150 |
| Gnomad | rs527236150 |
| Varsome | rs527236150 |
| LitVar | rs527236150 |
| Map | rs527236150 |
| PheGenI | rs527236150 |
| Biobank | rs527236150 |
| 1000 genomes | rs527236150 |
| hgdp | rs527236150 |
| ensembl | rs527236150 |
| geneview | rs527236150 |
| scholar | rs527236150 |
| rs527236150 | |
| pharmgkb | rs527236150 |
| gwascentral | rs527236150 |
| openSNP | rs527236150 |
| 23andMe | rs527236150 |
| SNPshot | rs527236150 |
| SNPdbe | rs527236150 |
| MSV3d | rs527236150 |
| GWAS Ctlg | rs527236150 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs527236150(T;T) |
| Alt | rs527236150(T;T) |
| Reference | Rs527236150(C;C) |
| Significance | Pathogenic |
| Disease | Hypokalemic periodic paralysis not provided |
| Variation | info |
| Gene | SCN4A |
| CLNDBN | Hypokalemic periodic paralysis, type 2 not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.62024442C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000132737.2, RCV000254971.1, |
