rs790889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs790889(C;C) |
Make rs790889(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 237783664 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs790889 |
dbSNP (classic) | rs790889 |
ClinGen | rs790889 |
ebi | rs790889 |
HLI | rs790889 |
Exac | rs790889 |
Gnomad | rs790889 |
Varsome | rs790889 |
LitVar | rs790889 |
Map | rs790889 |
PheGenI | rs790889 |
Biobank | rs790889 |
1000 genomes | rs790889 |
hgdp | rs790889 |
ensembl | rs790889 |
geneview | rs790889 |
scholar | rs790889 |
rs790889 | |
pharmgkb | rs790889 |
gwascentral | rs790889 |
openSNP | rs790889 |
23andMe | rs790889 |
SNPshot | rs790889 |
SNPdbe | rs790889 |
MSV3d | rs790889 |
GWAS Ctlg | rs790889 |
Max Magnitude | 0 |
[PMID 24978818] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
ClinVar | |
---|---|
Risk | rs790889(C;C) rs790889(G;G) |
Alt | rs790889(C;C) rs790889(G;G) |
Reference | Rs790889(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC |
Reversed | 0 |
HGVS | NC_000001.10:g.237946964T>C |
CLNSRC | ClinVar |
CLNACC | RCV000036668.4, RCV000273051.1, RCV000362948.1, |