Have questions? Visit https://www.reddit.com/r/SNPedia

rs118204422

From SNPedia

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


Make rs118204422(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38543816
GeneRYR1
is asnp
is mentioned by
dbSNPrs118204422
ebirs118204422
HLIrs118204422
Exacrs118204422
Varsomers118204422
Maprs118204422
PheGenIrs118204422
hapmaprs118204422
1000 genomesrs118204422
hgdprs118204422
ensemblrs118204422
gopubmedrs118204422
geneviewrs118204422
scholarrs118204422
googlers118204422
pharmgkbrs118204422
gwascentralrs118204422
openSNPrs118204422
23andMers118204422
23andMe allrs118204422
SNP Nexus

SNPshotrs118204422
SNPdbers118204422
MSV3drs118204422
GWAS Ctlgrs118204422
Max Magnitude3
ClinVar
Risk rs118204422(C;C)
Alt rs118204422(C;C)
Reference rs118204422(T;T)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.39034456T>C
CLNSRC ClinVar
CLNACC RCV000119445.1,


[PMID 18719443] Novel ryanodine receptor mutation that may cause malignant hyperthermia.