rs375021201
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs375021201(A;A) |
| Make rs375021201(A;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237783759 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375021201 |
| dbSNP (classic) | rs375021201 |
| ClinGen | rs375021201 |
| ebi | rs375021201 |
| HLI | rs375021201 |
| Exac | rs375021201 |
| Gnomad | rs375021201 |
| Varsome | rs375021201 |
| LitVar | rs375021201 |
| Map | rs375021201 |
| PheGenI | rs375021201 |
| Biobank | rs375021201 |
| 1000 genomes | rs375021201 |
| hgdp | rs375021201 |
| ensembl | rs375021201 |
| geneview | rs375021201 |
| scholar | rs375021201 |
| rs375021201 | |
| pharmgkb | rs375021201 |
| gwascentral | rs375021201 |
| openSNP | rs375021201 |
| 23andMe | rs375021201 |
| SNPshot | rs375021201 |
| SNPdbe | rs375021201 |
| MSV3d | rs375021201 |
| GWAS Ctlg | rs375021201 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375021201(A;A) |
| Alt | rs375021201(A;A) |
| Reference | Rs375021201(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237947059T>A |
| CLNSRC | |
| CLNACC | RCV000036670.2, RCV000182806.1, RCV000279641.1, RCV000378772.1, |
