rs533330664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs533330664(C;T) |
Make rs533330664(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237550628 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs533330664 |
dbSNP (classic) | rs533330664 |
ClinGen | rs533330664 |
ebi | rs533330664 |
HLI | rs533330664 |
Exac | rs533330664 |
Gnomad | rs533330664 |
Varsome | rs533330664 |
LitVar | rs533330664 |
Map | rs533330664 |
PheGenI | rs533330664 |
Biobank | rs533330664 |
1000 genomes | rs533330664 |
hgdp | rs533330664 |
ensembl | rs533330664 |
geneview | rs533330664 |
scholar | rs533330664 |
rs533330664 | |
pharmgkb | rs533330664 |
gwascentral | rs533330664 |
openSNP | rs533330664 |
23andMe | rs533330664 |
SNPshot | rs533330664 |
SNPdbe | rs533330664 |
MSV3d | rs533330664 |
GWAS Ctlg | rs533330664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs533330664(T;T) |
Alt | rs533330664(T;T) |
Reference | Rs533330664(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237713928C>T |
CLNSRC | |
CLNACC | RCV000182708.2, RCV000456036.1, |