rs876657635
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs876657635(G;T) |
Make rs876657635(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 115702996 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs876657635 |
dbSNP (classic) | rs876657635 |
ClinGen | rs876657635 |
ebi | rs876657635 |
HLI | rs876657635 |
Exac | rs876657635 |
Gnomad | rs876657635 |
Varsome | rs876657635 |
LitVar | rs876657635 |
Map | rs876657635 |
PheGenI | rs876657635 |
Biobank | rs876657635 |
1000 genomes | rs876657635 |
hgdp | rs876657635 |
ensembl | rs876657635 |
geneview | rs876657635 |
scholar | rs876657635 |
rs876657635 | |
pharmgkb | rs876657635 |
gwascentral | rs876657635 |
openSNP | rs876657635 |
23andMe | rs876657635 |
SNPshot | rs876657635 |
SNPdbe | rs876657635 |
MSV3d | rs876657635 |
GWAS Ctlg | rs876657635 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657635(T;T) |
Alt | rs876657635(T;T) |
Reference | Rs876657635(G;G) |
Significance | Probable-Pathogenic |
Disease | Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | CASQ2 |
CLNDBN | Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 1 |
HGVS | NC_000001.10:g.116245617C>A |
CLNSRC | |
CLNACC | RCV000222785.1, |