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rs118204421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 susceptibility to malignant hyperthermia
Make rs118204421(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38519237
GeneRYR1
is asnp
is mentioned by
dbSNPrs118204421
ebirs118204421
HLIrs118204421
Exacrs118204421
Varsomers118204421
Maprs118204421
PheGenIrs118204421
hapmaprs118204421
1000 genomesrs118204421
hgdprs118204421
ensemblrs118204421
gopubmedrs118204421
geneviewrs118204421
scholarrs118204421
googlers118204421
pharmgkbrs118204421
gwascentralrs118204421
openSNPrs118204421
23andMers118204421
23andMe allrs118204421
SNP Nexus

SNPshotrs118204421
SNPdbers118204421
MSV3drs118204421
GWAS Ctlgrs118204421
Max Magnitude3
ClinVar
Risk rs118204421(G,T;G,T)
Alt rs118204421(G,T;G,T)
Reference rs118204421(C;C)
Significance Probable-Pathogenic
Disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia
Reversed 0
HGVS NC_000019.9:g.39009877C>G
CLNSRC
CLNACC