rs146664754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146664754(C;C) |
Make rs146664754(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 115732940 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs146664754 |
dbSNP (classic) | rs146664754 |
ClinGen | rs146664754 |
ebi | rs146664754 |
HLI | rs146664754 |
Exac | rs146664754 |
Gnomad | rs146664754 |
Varsome | rs146664754 |
LitVar | rs146664754 |
Map | rs146664754 |
PheGenI | rs146664754 |
Biobank | rs146664754 |
1000 genomes | rs146664754 |
hgdp | rs146664754 |
ensembl | rs146664754 |
geneview | rs146664754 |
scholar | rs146664754 |
rs146664754 | |
pharmgkb | rs146664754 |
gwascentral | rs146664754 |
openSNP | rs146664754 |
23andMe | rs146664754 |
SNPshot | rs146664754 |
SNPdbe | rs146664754 |
MSV3d | rs146664754 |
GWAS Ctlg | rs146664754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146664754(C;C) |
Alt | rs146664754(C;C) |
Reference | Rs146664754(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Ventricular tachycardia Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | CASQ2 |
CLNDBN | not specified Ventricular tachycardia, polymorphic Ventricular tachycardia, catecholaminergic polymorphic, 2 Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.116275561G>C |
CLNSRC | |
CLNACC | RCV000150224.2, RCV000171562.1, RCV000415704.1, RCV000471177.1, |