rs193922810
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922810(A;A) |
Make rs193922810(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 38499984 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922810 |
dbSNP (classic) | rs193922810 |
ClinGen | rs193922810 |
ebi | rs193922810 |
HLI | rs193922810 |
Exac | rs193922810 |
Gnomad | rs193922810 |
Varsome | rs193922810 |
LitVar | rs193922810 |
Map | rs193922810 |
PheGenI | rs193922810 |
Biobank | rs193922810 |
1000 genomes | rs193922810 |
hgdp | rs193922810 |
ensembl | rs193922810 |
geneview | rs193922810 |
scholar | rs193922810 |
rs193922810 | |
pharmgkb | rs193922810 |
gwascentral | rs193922810 |
openSNP | rs193922810 |
23andMe | rs193922810 |
SNPshot | rs193922810 |
SNPdbe | rs193922810 |
MSV3d | rs193922810 |
GWAS Ctlg | rs193922810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922810(A;A) rs193922810(T;T) |
Alt | rs193922810(A;A) rs193922810(T;T) |
Reference | Rs193922810(G;G) |
Significance | Untested |
Disease | not provided Malignant hyperthermia |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided Malignant hyperthermia, susceptibility to, 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.38990624G>A; NC_000019.9:g.38990624G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119696.3, RCV000148824.1, RCV000119697.1, |