rs397516508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516508(C;C) |
Make rs397516508(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237784256 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516508 |
dbSNP (classic) | rs397516508 |
ClinGen | rs397516508 |
ebi | rs397516508 |
HLI | rs397516508 |
Exac | rs397516508 |
Gnomad | rs397516508 |
Varsome | rs397516508 |
LitVar | rs397516508 |
Map | rs397516508 |
PheGenI | rs397516508 |
Biobank | rs397516508 |
1000 genomes | rs397516508 |
hgdp | rs397516508 |
ensembl | rs397516508 |
geneview | rs397516508 |
scholar | rs397516508 |
rs397516508 | |
pharmgkb | rs397516508 |
gwascentral | rs397516508 |
openSNP | rs397516508 |
23andMe | rs397516508 |
SNPshot | rs397516508 |
SNPdbe | rs397516508 |
MSV3d | rs397516508 |
GWAS Ctlg | rs397516508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516508(C;C) |
Alt | rs397516508(C;C) |
Reference | Rs397516508(G;G) |
Significance | Probable-Pathogenic |
Disease | Catecholaminergic polymorphic ventricular tachycardia not provided |
Variation | info |
Gene | RYR2 |
CLNDBN | Catecholaminergic polymorphic ventricular tachycardia not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.237947556G>C |
CLNSRC | |
CLNACC | RCV000036672.2, RCV000182821.1, |