rs121918597
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918597(C;T) |
Make rs121918597(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 237634937 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918597 |
dbSNP (classic) | rs121918597 |
ClinGen | rs121918597 |
ebi | rs121918597 |
HLI | rs121918597 |
Exac | rs121918597 |
Gnomad | rs121918597 |
Varsome | rs121918597 |
LitVar | rs121918597 |
Map | rs121918597 |
PheGenI | rs121918597 |
Biobank | rs121918597 |
1000 genomes | rs121918597 |
hgdp | rs121918597 |
ensembl | rs121918597 |
geneview | rs121918597 |
scholar | rs121918597 |
rs121918597 | |
pharmgkb | rs121918597 |
gwascentral | rs121918597 |
openSNP | rs121918597 |
23andMe | rs121918597 |
SNPshot | rs121918597 |
SNPdbe | rs121918597 |
MSV3d | rs121918597 |
GWAS Ctlg | rs121918597 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918597(T;T) |
Alt | rs121918597(T;T) |
Reference | Rs121918597(C;C) |
Significance | Pathogenic |
Disease | Ventricular tachycardia not provided Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | Ventricular tachycardia, catecholaminergic polymorphic, 1 not provided Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237798237C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013820.17, RCV000182746.3, RCV000466223.1, |