rs144336148
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | malignant hyperthermia |
(G;G) | 0 | common/normal |
Make rs144336148(A;A) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 19 |
Position | 38455472 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs144336148 |
dbSNP (classic) | rs144336148 |
ClinGen | rs144336148 |
ebi | rs144336148 |
HLI | rs144336148 |
Exac | rs144336148 |
Gnomad | rs144336148 |
Varsome | rs144336148 |
LitVar | rs144336148 |
Map | rs144336148 |
PheGenI | rs144336148 |
Biobank | rs144336148 |
1000 genomes | rs144336148 |
hgdp | rs144336148 |
ensembl | rs144336148 |
geneview | rs144336148 |
scholar | rs144336148 |
rs144336148 | |
pharmgkb | rs144336148 |
gwascentral | rs144336148 |
openSNP | rs144336148 |
23andMe | rs144336148 |
SNPshot | rs144336148 |
SNPdbe | rs144336148 |
MSV3d | rs144336148 |
GWAS Ctlg | rs144336148 |
Max Magnitude | 3 |
aka c.1598G>A (p.Arg533His or R533H)