rs193922772
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | susceptibility to malignant hyperthermia |
(G;T) | 3 | malignant hyperthermia |
Make rs193922772(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38457546 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922772 |
dbSNP (classic) | rs193922772 |
ClinGen | rs193922772 |
ebi | rs193922772 |
HLI | rs193922772 |
Exac | rs193922772 |
Gnomad | rs193922772 |
Varsome | rs193922772 |
LitVar | rs193922772 |
Map | rs193922772 |
PheGenI | rs193922772 |
Biobank | rs193922772 |
1000 genomes | rs193922772 |
hgdp | rs193922772 |
ensembl | rs193922772 |
geneview | rs193922772 |
scholar | rs193922772 |
rs193922772 | |
pharmgkb | rs193922772 |
gwascentral | rs193922772 |
openSNP | rs193922772 |
23andMe | rs193922772 |
SNPshot | rs193922772 |
SNPdbe | rs193922772 |
MSV3d | rs193922772 |
GWAS Ctlg | rs193922772 |
Max Magnitude | 3 |
rs193922772, aka c.1841G>T, p.Arg614Leu or p.R614L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar | |
---|---|
Risk | rs193922772(A;A) rs193922772(T;T) |
Alt | rs193922772(A;A) rs193922772(T;T) |
Reference | Rs193922772(G;G) |
Significance | Pathogenic |
Disease | not provided Malignant hyperthermia Central core disease |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided Malignant hyperthermia, susceptibility to, 1 Central core disease |
Reversed | 0 |
HGVS | NC_000019.9:g.38948186G>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000119587.3, RCV000175143.1, RCV000175144.1, |