rs375021201
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs375021201(A;A) |
Make rs375021201(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237783759 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs375021201 |
dbSNP (classic) | rs375021201 |
ClinGen | rs375021201 |
ebi | rs375021201 |
HLI | rs375021201 |
Exac | rs375021201 |
Gnomad | rs375021201 |
Varsome | rs375021201 |
LitVar | rs375021201 |
Map | rs375021201 |
PheGenI | rs375021201 |
Biobank | rs375021201 |
1000 genomes | rs375021201 |
hgdp | rs375021201 |
ensembl | rs375021201 |
geneview | rs375021201 |
scholar | rs375021201 |
rs375021201 | |
pharmgkb | rs375021201 |
gwascentral | rs375021201 |
openSNP | rs375021201 |
23andMe | rs375021201 |
SNPshot | rs375021201 |
SNPdbe | rs375021201 |
MSV3d | rs375021201 |
GWAS Ctlg | rs375021201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375021201(A;A) |
Alt | rs375021201(A;A) |
Reference | Rs375021201(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC |
Reversed | 0 |
HGVS | NC_000001.10:g.237947059T>A |
CLNSRC | |
CLNACC | RCV000036670.2, RCV000182806.1, RCV000279641.1, RCV000378772.1, |