rs794728708
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728708(A;A) |
Make rs794728708(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 237377386 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728708 |
dbSNP (classic) | rs794728708 |
ClinGen | rs794728708 |
ebi | rs794728708 |
HLI | rs794728708 |
Exac | rs794728708 |
Gnomad | rs794728708 |
Varsome | rs794728708 |
LitVar | rs794728708 |
Map | rs794728708 |
PheGenI | rs794728708 |
Biobank | rs794728708 |
1000 genomes | rs794728708 |
hgdp | rs794728708 |
ensembl | rs794728708 |
geneview | rs794728708 |
scholar | rs794728708 |
rs794728708 | |
pharmgkb | rs794728708 |
gwascentral | rs794728708 |
openSNP | rs794728708 |
23andMe | rs794728708 |
SNPshot | rs794728708 |
SNPdbe | rs794728708 |
MSV3d | rs794728708 |
GWAS Ctlg | rs794728708 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728708(A;A) rs794728708(T;T) |
Alt | rs794728708(A;A) rs794728708(T;T) |
Reference | Rs794728708(G;G) |
Significance | Pathogenic |
Disease | not provided Ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided Ventricular tachycardia, catecholaminergic polymorphic, 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.237540686G>A; NC_000001.10:g.237540686G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000182659.3, RCV000208033.2, RCV000182660.4, |