rs193922762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | malignant hyperthermia |
Make rs193922762(T;T) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 19 |
Position | 38448673 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922762 |
dbSNP (classic) | rs193922762 |
ClinGen | rs193922762 |
ebi | rs193922762 |
HLI | rs193922762 |
Exac | rs193922762 |
Gnomad | rs193922762 |
Varsome | rs193922762 |
LitVar | rs193922762 |
Map | rs193922762 |
PheGenI | rs193922762 |
Biobank | rs193922762 |
1000 genomes | rs193922762 |
hgdp | rs193922762 |
ensembl | rs193922762 |
geneview | rs193922762 |
scholar | rs193922762 |
rs193922762 | |
pharmgkb | rs193922762 |
gwascentral | rs193922762 |
openSNP | rs193922762 |
23andMe | rs193922762 |
SNPshot | rs193922762 |
SNPdbe | rs193922762 |
MSV3d | rs193922762 |
GWAS Ctlg | rs193922762 |
Max Magnitude | 3 |
aka c.982C>T (p.Arg328Trp or R328W)