rs794728777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728777(A;A) |
Make rs794728777(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 237778726 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728777 |
dbSNP (classic) | rs794728777 |
ClinGen | rs794728777 |
ebi | rs794728777 |
HLI | rs794728777 |
Exac | rs794728777 |
Gnomad | rs794728777 |
Varsome | rs794728777 |
LitVar | rs794728777 |
Map | rs794728777 |
PheGenI | rs794728777 |
Biobank | rs794728777 |
1000 genomes | rs794728777 |
hgdp | rs794728777 |
ensembl | rs794728777 |
geneview | rs794728777 |
scholar | rs794728777 |
rs794728777 | |
pharmgkb | rs794728777 |
gwascentral | rs794728777 |
openSNP | rs794728777 |
23andMe | rs794728777 |
SNPshot | rs794728777 |
SNPdbe | rs794728777 |
MSV3d | rs794728777 |
GWAS Ctlg | rs794728777 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728777(A;A) |
Alt | rs794728777(A;A) |
Reference | Rs794728777(G;G) |
Significance | Pathogenic |
Disease | not provided Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237942026G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000182800.1, RCV000460954.1, |