rs397507555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397507555(-;-) |
Make rs397507555(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 115768480 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507555 |
dbSNP (classic) | rs397507555 |
ClinGen | rs397507555 |
ebi | rs397507555 |
HLI | rs397507555 |
Exac | rs397507555 |
Gnomad | rs397507555 |
Varsome | rs397507555 |
LitVar | rs397507555 |
Map | rs397507555 |
PheGenI | rs397507555 |
Biobank | rs397507555 |
1000 genomes | rs397507555 |
hgdp | rs397507555 |
ensembl | rs397507555 |
geneview | rs397507555 |
scholar | rs397507555 |
rs397507555 | |
pharmgkb | rs397507555 |
gwascentral | rs397507555 |
openSNP | rs397507555 |
23andMe | rs397507555 |
SNPshot | rs397507555 |
SNPdbe | rs397507555 |
MSV3d | rs397507555 |
GWAS Ctlg | rs397507555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507555(-;-) |
Alt | rs397507555(-;-) |
Reference | Rs397507555(A;A) |
Significance | Pathogenic |
Disease | Ventricular tachycardia |
Variation | info |
Gene | CASQ2 |
CLNDBN | Ventricular tachycardia, catecholaminergic polymorphic, 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.116311101delT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033941.2, |