rs121918593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | susceptibility to malignant hyperthermia |
(G;G) | 0 | common |
Make rs121918593(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38499993 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918593 |
dbSNP (classic) | rs121918593 |
ClinGen | rs121918593 |
ebi | rs121918593 |
HLI | rs121918593 |
Exac | rs121918593 |
Gnomad | rs121918593 |
Varsome | rs121918593 |
LitVar | rs121918593 |
Map | rs121918593 |
PheGenI | rs121918593 |
Biobank | rs121918593 |
1000 genomes | rs121918593 |
hgdp | rs121918593 |
ensembl | rs121918593 |
geneview | rs121918593 |
scholar | rs121918593 |
rs121918593 | |
pharmgkb | rs121918593 |
gwascentral | rs121918593 |
openSNP | rs121918593 |
23andMe | rs121918593 |
SNPshot | rs121918593 |
SNPdbe | rs121918593 |
MSV3d | rs121918593 |
GWAS Ctlg | rs121918593 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121918593(A;A) |
Alt | rs121918593(A;A) |
Reference | Rs121918593(G;G) |
Significance | Other |
Disease | Malignant hyperthermia not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | Malignant hyperthermia, susceptibility to, 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.38990633G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013837.3, RCV000119698.1, |
rs121918593, aka p.Gly2434Arg or p.G2434R, is a SNP in the RYR1 gene leading to susceptibility to malignant hyperthermia when heterozygous.
[PMID 9030597] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.