rs527236148
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;G) | 0 | common in clinvar | 
| Make rs527236148(A;A) | 
| Make rs527236148(A;G) | 
| Reference | GRCh38 38.1/142 | 
| Chromosome | 17 | 
| Position | 63971201 | 
| Gene | SCN4A | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs527236148 | 
| dbSNP (classic) | rs527236148 | 
| ClinGen | rs527236148 | 
| ebi | rs527236148 | 
| HLI | rs527236148 | 
| Exac | rs527236148 | 
| Gnomad | rs527236148 | 
| Varsome | rs527236148 | 
| LitVar | rs527236148 | 
| Map | rs527236148 | 
| PheGenI | rs527236148 | 
| Biobank | rs527236148 | 
| 1000 genomes | rs527236148 | 
| hgdp | rs527236148 | 
| ensembl | rs527236148 | 
| geneview | rs527236148 | 
| scholar | rs527236148 | 
| rs527236148 | |
| pharmgkb | rs527236148 | 
| gwascentral | rs527236148 | 
| openSNP | rs527236148 | 
| 23andMe | rs527236148 | 
| SNPshot | rs527236148 | 
| SNPdbe | rs527236148 | 
| MSV3d | rs527236148 | 
| GWAS Ctlg | rs527236148 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs527236148(A;A) | 
| Alt | rs527236148(A;A) | 
| Reference | Rs527236148(G;G) | 
| Significance | Pathogenic | 
| Disease | Hypokalemic periodic paralysis | 
| Variation | info | 
| Gene | SCN4A | 
| CLNDBN | Hypokalemic periodic paralysis, type 2 | 
| Reversed | 0 | 
| HGVS | NC_000017.10:g.62048561G>A | 
| CLNSRC | UniProtKB (protein) | 
| CLNACC | RCV000132735.2, | 


