rs193922826
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common |
(C;T) | 3 | susceptibility to malignant hyperthermia |
Make rs193922826(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38504319 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922826 |
dbSNP (classic) | rs193922826 |
ClinGen | rs193922826 |
ebi | rs193922826 |
HLI | rs193922826 |
Exac | rs193922826 |
Gnomad | rs193922826 |
Varsome | rs193922826 |
LitVar | rs193922826 |
Map | rs193922826 |
PheGenI | rs193922826 |
Biobank | rs193922826 |
1000 genomes | rs193922826 |
hgdp | rs193922826 |
ensembl | rs193922826 |
geneview | rs193922826 |
scholar | rs193922826 |
rs193922826 | |
pharmgkb | rs193922826 |
gwascentral | rs193922826 |
openSNP | rs193922826 |
23andMe | rs193922826 |
SNPshot | rs193922826 |
SNPdbe | rs193922826 |
MSV3d | rs193922826 |
GWAS Ctlg | rs193922826 |
Merged from | Rs28934001 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs193922826(T;T) |
Alt | rs193922826(T;T) |
Reference | Rs193922826(C;C) |
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.38994959C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013857.2, RCV000119737.2, |
[PMID 16163667] Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.