rs786205106
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCTGTATATTCTTAAG;CCTGTATATTCTTAAG) | 0 | common in clinvar |
Make rs786205106(-;-) |
Make rs786205106(-;CCTGTATATTCTTAAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 115740794 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205106 |
dbSNP (classic) | rs786205106 |
ClinGen | rs786205106 |
ebi | rs786205106 |
HLI | rs786205106 |
Exac | rs786205106 |
Gnomad | rs786205106 |
Varsome | rs786205106 |
LitVar | rs786205106 |
Map | rs786205106 |
PheGenI | rs786205106 |
Biobank | rs786205106 |
1000 genomes | rs786205106 |
hgdp | rs786205106 |
ensembl | rs786205106 |
geneview | rs786205106 |
scholar | rs786205106 |
rs786205106 | |
pharmgkb | rs786205106 |
gwascentral | rs786205106 |
openSNP | rs786205106 |
23andMe | rs786205106 |
SNPshot | rs786205106 |
SNPdbe | rs786205106 |
MSV3d | rs786205106 |
GWAS Ctlg | rs786205106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205106(-;-) |
Alt | rs786205106(-;-) |
Reference | Rs786205106(CCTGTATATTCTTAAG;CCTGTATATTCTTAAG) |
Significance | Pathogenic |
Disease | Ventricular tachycardia not provided |
Variation | info |
Gene | CASQ2 |
CLNDBN | Ventricular tachycardia, catecholaminergic polymorphic, 2 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.116283415_116283430del16 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019177.28, RCV000170902.2, |