rs16835237
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs16835237(C;C) |
Make rs16835237(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 237423084 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs16835237 |
dbSNP (classic) | rs16835237 |
ClinGen | rs16835237 |
ebi | rs16835237 |
HLI | rs16835237 |
Exac | rs16835237 |
Gnomad | rs16835237 |
Varsome | rs16835237 |
LitVar | rs16835237 |
Map | rs16835237 |
PheGenI | rs16835237 |
Biobank | rs16835237 |
1000 genomes | rs16835237 |
hgdp | rs16835237 |
ensembl | rs16835237 |
geneview | rs16835237 |
scholar | rs16835237 |
rs16835237 | |
pharmgkb | rs16835237 |
gwascentral | rs16835237 |
openSNP | rs16835237 |
23andMe | rs16835237 |
SNPshot | rs16835237 |
SNPdbe | rs16835237 |
MSV3d | rs16835237 |
GWAS Ctlg | rs16835237 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 24978818] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
ClinVar | |
---|---|
Risk | rs16835237(C;C) |
Alt | rs16835237(C;C) |
Reference | Rs16835237(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.237586384T>C |
CLNSRC | ClinVar |
CLNACC | RCV000036800.7, RCV000295186.1, RCV000387143.1, |