rs200236750
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200236750(C;T) |
Make rs200236750(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 237566672 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs200236750 |
dbSNP (classic) | rs200236750 |
ClinGen | rs200236750 |
ebi | rs200236750 |
HLI | rs200236750 |
Exac | rs200236750 |
Gnomad | rs200236750 |
Varsome | rs200236750 |
LitVar | rs200236750 |
Map | rs200236750 |
PheGenI | rs200236750 |
Biobank | rs200236750 |
1000 genomes | rs200236750 |
hgdp | rs200236750 |
ensembl | rs200236750 |
geneview | rs200236750 |
scholar | rs200236750 |
rs200236750 | |
pharmgkb | rs200236750 |
gwascentral | rs200236750 |
openSNP | rs200236750 |
23andMe | rs200236750 |
SNPshot | rs200236750 |
SNPdbe | rs200236750 |
MSV3d | rs200236750 |
GWAS Ctlg | rs200236750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200236750(T;T) |
Alt | rs200236750(T;T) |
Reference | Rs200236750(C;C) |
Significance | Pathogenic |
Disease | not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Death in infancy |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia Death in infancy |
Reversed | 0 |
HGVS | NC_000001.10:g.237729972C>T |
CLNSRC | |
CLNACC | RCV000036728.5, RCV000171761.2, RCV000228614.1, RCV000234976.1, |