rs121918602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918602(C;C) |
Make rs121918602(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 237454396 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918602 |
dbSNP (classic) | rs121918602 |
ClinGen | rs121918602 |
ebi | rs121918602 |
HLI | rs121918602 |
Exac | rs121918602 |
Gnomad | rs121918602 |
Varsome | rs121918602 |
LitVar | rs121918602 |
Map | rs121918602 |
PheGenI | rs121918602 |
Biobank | rs121918602 |
1000 genomes | rs121918602 |
hgdp | rs121918602 |
ensembl | rs121918602 |
geneview | rs121918602 |
scholar | rs121918602 |
rs121918602 | |
pharmgkb | rs121918602 |
gwascentral | rs121918602 |
openSNP | rs121918602 |
23andMe | rs121918602 |
SNPshot | rs121918602 |
SNPdbe | rs121918602 |
MSV3d | rs121918602 |
GWAS Ctlg | rs121918602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918602(C;C) |
Alt | rs121918602(C;C) |
Reference | Rs121918602(T;T) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular dysplasia Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome |
Variation | info |
Gene | RYR2 |
CLNDBN | Arrhythmogenic right ventricular dysplasia, familial, 2 Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.237617696T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013825.17, RCV000151756.2, RCV000190229.1, |