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rs121918595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 3 susceptibility to malignant hyperthermia
Make rs121918595(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580094
GeneRYR1
is asnp
is mentioned by
dbSNPrs121918595
ebirs121918595
HLIrs121918595
Exacrs121918595
Varsomers121918595
Maprs121918595
PheGenIrs121918595
hapmaprs121918595
1000 genomesrs121918595
hgdprs121918595
ensemblrs121918595
gopubmedrs121918595
geneviewrs121918595
scholarrs121918595
googlers121918595
pharmgkbrs121918595
gwascentralrs121918595
openSNPrs121918595
23andMers121918595
23andMe allrs121918595
SNP Nexus

SNPshotrs121918595
SNPdbers121918595
MSV3drs121918595
GWAS Ctlgrs121918595
Max Magnitude3
OMIM180901
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918595(T;T)
Alt rs121918595(T;T)
Reference rs121918595(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.39070734C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013847.2, RCV000119520.1,



rs121918595, aka p.Thr4826Ile or p.T4826I, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.


[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.


[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.