rs193922626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922626(C;C) |
Make rs193922626(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 237590901 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922626 |
dbSNP (classic) | rs193922626 |
ClinGen | rs193922626 |
ebi | rs193922626 |
HLI | rs193922626 |
Exac | rs193922626 |
Gnomad | rs193922626 |
Varsome | rs193922626 |
LitVar | rs193922626 |
Map | rs193922626 |
PheGenI | rs193922626 |
Biobank | rs193922626 |
1000 genomes | rs193922626 |
hgdp | rs193922626 |
ensembl | rs193922626 |
geneview | rs193922626 |
scholar | rs193922626 |
rs193922626 | |
pharmgkb | rs193922626 |
gwascentral | rs193922626 |
openSNP | rs193922626 |
23andMe | rs193922626 |
SNPshot | rs193922626 |
SNPdbe | rs193922626 |
MSV3d | rs193922626 |
GWAS Ctlg | rs193922626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922626(A;A) rs193922626(C;C) |
Alt | rs193922626(A;A) rs193922626(C;C) |
Reference | Rs193922626(G;G) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 Cardiomyopathy not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237754201G>A; NC_000001.10:g.237754201G>C |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000490834.1, RCV000030422.1, RCV000154818.1, |