rs730880191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880191(A;A) |
Make rs730880191(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237566623 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880191 |
dbSNP (classic) | rs730880191 |
ClinGen | rs730880191 |
ebi | rs730880191 |
HLI | rs730880191 |
Exac | rs730880191 |
Gnomad | rs730880191 |
Varsome | rs730880191 |
LitVar | rs730880191 |
Map | rs730880191 |
PheGenI | rs730880191 |
Biobank | rs730880191 |
1000 genomes | rs730880191 |
hgdp | rs730880191 |
ensembl | rs730880191 |
geneview | rs730880191 |
scholar | rs730880191 |
rs730880191 | |
pharmgkb | rs730880191 |
gwascentral | rs730880191 |
openSNP | rs730880191 |
23andMe | rs730880191 |
SNPshot | rs730880191 |
SNPdbe | rs730880191 |
MSV3d | rs730880191 |
GWAS Ctlg | rs730880191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880191(A;A) |
Alt | rs730880191(A;A) |
Reference | Rs730880191(G;G) |
Significance | Probable-Pathogenic |
Disease | Ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | Ventricular tachycardia, catecholaminergic polymorphic, 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.237729923G>A |
CLNSRC | |
CLNACC | RCV000157453.1, |