rs190140598
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs190140598(C;T) |
Make rs190140598(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237445488 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs190140598 |
dbSNP (classic) | rs190140598 |
ClinGen | rs190140598 |
ebi | rs190140598 |
HLI | rs190140598 |
Exac | rs190140598 |
Gnomad | rs190140598 |
Varsome | rs190140598 |
LitVar | rs190140598 |
Map | rs190140598 |
PheGenI | rs190140598 |
Biobank | rs190140598 |
1000 genomes | rs190140598 |
hgdp | rs190140598 |
ensembl | rs190140598 |
geneview | rs190140598 |
scholar | rs190140598 |
rs190140598 | |
pharmgkb | rs190140598 |
gwascentral | rs190140598 |
openSNP | rs190140598 |
23andMe | rs190140598 |
SNPshot | rs190140598 |
SNPdbe | rs190140598 |
MSV3d | rs190140598 |
GWAS Ctlg | rs190140598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs190140598(T;T) |
Alt | rs190140598(T;T) |
Reference | Rs190140598(C;C) |
Significance | Pathogenic |
Disease | not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237608788C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000182680.3, RCV000202619.1, RCV000219729.1, |