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rs118192122

From SNPedia

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


Make rs118192122(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500643
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192122
ebirs118192122
HLIrs118192122
Exacrs118192122
Varsomers118192122
Maprs118192122
PheGenIrs118192122
hapmaprs118192122
1000 genomesrs118192122
hgdprs118192122
ensemblrs118192122
gopubmedrs118192122
geneviewrs118192122
scholarrs118192122
googlers118192122
pharmgkbrs118192122
gwascentralrs118192122
openSNPrs118192122
23andMers118192122
23andMe allrs118192122
SNP Nexus

SNPshotrs118192122
SNPdbers118192122
MSV3drs118192122
GWAS Ctlgrs118192122
Max Magnitude3
rs118192122, aka p.Arg2454His or p.R2454H, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs118192122(A;A)
Alt rs118192122(A;A)
Reference rs118192122(G;G)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.38991283G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056227.1, RCV000119710.1,