rs571985775
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs571985775(A;A) |
Make rs571985775(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237785999 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs571985775 |
dbSNP (classic) | rs571985775 |
ClinGen | rs571985775 |
ebi | rs571985775 |
HLI | rs571985775 |
Exac | rs571985775 |
Gnomad | rs571985775 |
Varsome | rs571985775 |
LitVar | rs571985775 |
Map | rs571985775 |
PheGenI | rs571985775 |
Biobank | rs571985775 |
1000 genomes | rs571985775 |
hgdp | rs571985775 |
ensembl | rs571985775 |
geneview | rs571985775 |
scholar | rs571985775 |
rs571985775 | |
pharmgkb | rs571985775 |
gwascentral | rs571985775 |
openSNP | rs571985775 |
23andMe | rs571985775 |
SNPshot | rs571985775 |
SNPdbe | rs571985775 |
MSV3d | rs571985775 |
GWAS Ctlg | rs571985775 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs571985775(A;A) |
Alt | rs571985775(A;A) |
Reference | Rs571985775(G;G) |
Significance | Pathogenic |
Disease | not specified Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237949299G>A |
CLNSRC | |
CLNACC | RCV000151775.5, RCV000458521.1, |