rs397516510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516510(A;A) |
Make rs397516510(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237791480 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516510 |
dbSNP (classic) | rs397516510 |
ClinGen | rs397516510 |
ebi | rs397516510 |
HLI | rs397516510 |
Exac | rs397516510 |
Gnomad | rs397516510 |
Varsome | rs397516510 |
LitVar | rs397516510 |
Map | rs397516510 |
PheGenI | rs397516510 |
Biobank | rs397516510 |
1000 genomes | rs397516510 |
hgdp | rs397516510 |
ensembl | rs397516510 |
geneview | rs397516510 |
scholar | rs397516510 |
rs397516510 | |
pharmgkb | rs397516510 |
gwascentral | rs397516510 |
openSNP | rs397516510 |
23andMe | rs397516510 |
SNPshot | rs397516510 |
SNPdbe | rs397516510 |
MSV3d | rs397516510 |
GWAS Ctlg | rs397516510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516510(A;A) rs397516510(T;T) |
Alt | rs397516510(A;A) rs397516510(T;T) |
Reference | Rs397516510(G;G) |
Significance | Pathogenic |
Disease | not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia not provided |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.237954780G>A; NC_000001.10:g.237954780G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036678.3, RCV000208469.1, RCV000231726.1, RCV000182838.2, |