rs139228801
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139228801(A;A) |
Make rs139228801(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 115705208 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs139228801 |
dbSNP (classic) | rs139228801 |
ClinGen | rs139228801 |
ebi | rs139228801 |
HLI | rs139228801 |
Exac | rs139228801 |
Gnomad | rs139228801 |
Varsome | rs139228801 |
LitVar | rs139228801 |
Map | rs139228801 |
PheGenI | rs139228801 |
Biobank | rs139228801 |
1000 genomes | rs139228801 |
hgdp | rs139228801 |
ensembl | rs139228801 |
geneview | rs139228801 |
scholar | rs139228801 |
rs139228801 | |
pharmgkb | rs139228801 |
gwascentral | rs139228801 |
openSNP | rs139228801 |
23andMe | rs139228801 |
SNPshot | rs139228801 |
SNPdbe | rs139228801 |
MSV3d | rs139228801 |
GWAS Ctlg | rs139228801 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139228801(A;A) rs139228801(T;T) |
Alt | rs139228801(A;A) rs139228801(T;T) |
Reference | Rs139228801(G;G) |
Significance | Pathogenic |
Disease | not provided Catecholaminergic polymorphic ventricular tachycardia not specified |
Variation | info |
Gene | CASQ2 |
CLNDBN | not provided Catecholaminergic polymorphic ventricular tachycardia not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.116247829G>A; NC_000001.10:g.116247829G>T |
CLNSRC | |
CLNACC | RCV000170910.2, RCV000476475.1, RCV000150221.1, |