rs118192135
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;G) | 0 | common in clinvar | 
| Make rs118192135(A;A) | 
| Make rs118192135(A;G) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 19 | 
| Position | 38572185 | 
| Gene | RYR1 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs118192135 | 
| dbSNP (classic) | rs118192135 | 
| ClinGen | rs118192135 | 
| ebi | rs118192135 | 
| HLI | rs118192135 | 
| Exac | rs118192135 | 
| Gnomad | rs118192135 | 
| Varsome | rs118192135 | 
| LitVar | rs118192135 | 
| Map | rs118192135 | 
| PheGenI | rs118192135 | 
| Biobank | rs118192135 | 
| 1000 genomes | rs118192135 | 
| hgdp | rs118192135 | 
| ensembl | rs118192135 | 
| geneview | rs118192135 | 
| scholar | rs118192135 | 
| rs118192135 | |
| pharmgkb | rs118192135 | 
| gwascentral | rs118192135 | 
| openSNP | rs118192135 | 
| 23andMe | rs118192135 | 
| SNPshot | rs118192135 | 
| SNPdbe | rs118192135 | 
| MSV3d | rs118192135 | 
| GWAS Ctlg | rs118192135 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs118192135(A;A) | 
| Alt | rs118192135(A;A) | 
| Reference | Rs118192135(G;G) | 
| Significance | Pathogenic | 
| Disease | Central core disease not provided | 
| Variation | info | 
| Gene | RYR1 | 
| CLNDBN | Central core disease not provided | 
| Reversed | 0 | 
| HGVS | NC_000019.9:g.39062825G>A | 
| CLNSRC | UniProtKB (protein) | 
| CLNACC | RCV000056188.1, RCV000119490.1, | 


