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rs118192124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 malignant hyperthermia
Make rs118192124(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500636
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192124
dbSNP (classic)rs118192124
ClinGenrs118192124
ebirs118192124
HLIrs118192124
Exacrs118192124
Gnomadrs118192124
Varsomers118192124
LitVarrs118192124
Maprs118192124
PheGenIrs118192124
Biobankrs118192124
1000 genomesrs118192124
hgdprs118192124
ensemblrs118192124
geneviewrs118192124
scholarrs118192124
googlers118192124
pharmgkbrs118192124
gwascentralrs118192124
openSNPrs118192124
23andMers118192124
SNPshotrs118192124
SNPdbers118192124
MSV3drs118192124
GWAS Ctlgrs118192124
Max Magnitude3

aka c.7354C>T (p.Arg2452Trp or R2452W)

23andMe name: i6017785

ClinVar
Risk rs118192124(T;T)
Alt rs118192124(T;T)
Reference Rs118192124(C;C)
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.38991276C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056226.1, RCV000119706.1,