rs730880199
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880199(G;G) |
Make rs730880199(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 237819167 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880199 |
dbSNP (classic) | rs730880199 |
ClinGen | rs730880199 |
ebi | rs730880199 |
HLI | rs730880199 |
Exac | rs730880199 |
Gnomad | rs730880199 |
Varsome | rs730880199 |
LitVar | rs730880199 |
Map | rs730880199 |
PheGenI | rs730880199 |
Biobank | rs730880199 |
1000 genomes | rs730880199 |
hgdp | rs730880199 |
ensembl | rs730880199 |
geneview | rs730880199 |
scholar | rs730880199 |
rs730880199 | |
pharmgkb | rs730880199 |
gwascentral | rs730880199 |
openSNP | rs730880199 |
23andMe | rs730880199 |
SNPshot | rs730880199 |
SNPdbe | rs730880199 |
MSV3d | rs730880199 |
GWAS Ctlg | rs730880199 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880199(G;G) |
Alt | rs730880199(G;G) |
Reference | Rs730880199(T;T) |
Significance | Probable-Pathogenic |
Disease | Left ventricular noncompaction cardiomyopathy |
Variation | info |
Gene | RYR2 |
CLNDBN | Left ventricular noncompaction cardiomyopathy |
Reversed | 0 |
HGVS | NC_000001.10:g.237982467T>G |
CLNSRC | |
CLNACC | RCV000157468.2, |