rs139161723
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139161723(A;A) |
Make rs139161723(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 38440830 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs139161723 |
dbSNP (classic) | rs139161723 |
ClinGen | rs139161723 |
ebi | rs139161723 |
HLI | rs139161723 |
Exac | rs139161723 |
Gnomad | rs139161723 |
Varsome | rs139161723 |
LitVar | rs139161723 |
Map | rs139161723 |
PheGenI | rs139161723 |
Biobank | rs139161723 |
1000 genomes | rs139161723 |
hgdp | rs139161723 |
ensembl | rs139161723 |
geneview | rs139161723 |
scholar | rs139161723 |
rs139161723 | |
pharmgkb | rs139161723 |
gwascentral | rs139161723 |
openSNP | rs139161723 |
23andMe | rs139161723 |
SNPshot | rs139161723 |
SNPdbe | rs139161723 |
MSV3d | rs139161723 |
GWAS Ctlg | rs139161723 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139161723(A;A) |
Alt | rs139161723(A;A) |
Reference | Rs139161723(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Malignant hyperthermia |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided Malignant hyperthermia, susceptibility to, 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.38931470G>A |
CLNSRC | |
CLNACC | RCV000119474.1, RCV000148813.1, |