rs730880200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880200(A;A) |
Make rs730880200(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237828425 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880200 |
dbSNP (classic) | rs730880200 |
ClinGen | rs730880200 |
ebi | rs730880200 |
HLI | rs730880200 |
Exac | rs730880200 |
Gnomad | rs730880200 |
Varsome | rs730880200 |
LitVar | rs730880200 |
Map | rs730880200 |
PheGenI | rs730880200 |
Biobank | rs730880200 |
1000 genomes | rs730880200 |
hgdp | rs730880200 |
ensembl | rs730880200 |
geneview | rs730880200 |
scholar | rs730880200 |
rs730880200 | |
pharmgkb | rs730880200 |
gwascentral | rs730880200 |
openSNP | rs730880200 |
23andMe | rs730880200 |
SNPshot | rs730880200 |
SNPdbe | rs730880200 |
MSV3d | rs730880200 |
GWAS Ctlg | rs730880200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880200(A;A) |
Alt | rs730880200(A;A) |
Reference | Rs730880200(C;C) |
Significance | Probable-Pathogenic |
Disease | Paroxysmal familial ventricular fibrillation 1 not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | Paroxysmal familial ventricular fibrillation 1 not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237991725C>A |
CLNSRC | |
CLNACC | RCV000157469.1, RCV000489644.1, |