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rs118204423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 susceptibility to malignant hyperthermia
(G;G) 0 common in clinvar


Make rs118204423(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38457539
GeneRYR1
is asnp
is mentioned by
dbSNPrs118204423
ebirs118204423
HLIrs118204423
Exacrs118204423
Varsomers118204423
Maprs118204423
PheGenIrs118204423
hapmaprs118204423
1000 genomesrs118204423
hgdprs118204423
ensemblrs118204423
gopubmedrs118204423
geneviewrs118204423
scholarrs118204423
googlers118204423
pharmgkbrs118204423
gwascentralrs118204423
openSNPrs118204423
23andMers118204423
23andMe allrs118204423
SNP Nexus

SNPshotrs118204423
SNPdbers118204423
MSV3drs118204423
GWAS Ctlgrs118204423
Max Magnitude3
ClinVar
Risk rs118204423(C;C)
Alt rs118204423(C;C)
Reference rs118204423(G;G)
Significance Probable-Pathogenic
Disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia
Reversed 0
HGVS NC_000019.9:g.38948179G>C
CLNSRC
CLNACC