rs772494345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs772494345(G;T) |
Make rs772494345(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 38561329 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs772494345 |
dbSNP (classic) | rs772494345 |
ClinGen | rs772494345 |
ebi | rs772494345 |
HLI | rs772494345 |
Exac | rs772494345 |
Gnomad | rs772494345 |
Varsome | rs772494345 |
LitVar | rs772494345 |
Map | rs772494345 |
PheGenI | rs772494345 |
Biobank | rs772494345 |
1000 genomes | rs772494345 |
hgdp | rs772494345 |
ensembl | rs772494345 |
geneview | rs772494345 |
scholar | rs772494345 |
rs772494345 | |
pharmgkb | rs772494345 |
gwascentral | rs772494345 |
openSNP | rs772494345 |
23andMe | rs772494345 |
SNPshot | rs772494345 |
SNPdbe | rs772494345 |
MSV3d | rs772494345 |
GWAS Ctlg | rs772494345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772494345(A;A) rs772494345(T;T) |
Alt | rs772494345(A;A) rs772494345(T;T) |
Reference | Rs772494345(G;G) |
Significance | Pathogenic |
Disease | Central core disease Malignant hyperthermia |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease Malignant hyperthermia, susceptibility to, 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.39051969G>T |
CLNSRC | |
CLNACC | RCV000180722.2, RCV000180723.2, |