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rs193922876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 malignant hyperthermia
Make rs193922876(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position38580114
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922876
dbSNP (classic)rs193922876
ClinGenrs193922876
ebirs193922876
HLIrs193922876
Exacrs193922876
Gnomadrs193922876
Varsomers193922876
LitVarrs193922876
Maprs193922876
PheGenIrs193922876
Biobankrs193922876
1000 genomesrs193922876
hgdprs193922876
ensemblrs193922876
geneviewrs193922876
scholarrs193922876
googlers193922876
pharmgkbrs193922876
gwascentralrs193922876
openSNPrs193922876
23andMers193922876
SNPshotrs193922876
SNPdbers193922876
MSV3drs193922876
GWAS Ctlgrs193922876
Max Magnitude3

aka c.14497C>T (p.His4833Tyr or H4833Y)

23andMe name: i6017652

ClinVar
Risk rs193922876(T;T)
Alt rs193922876(T;T)
Reference Rs193922876(C;C)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.39070754C>T
CLNSRC
CLNACC RCV000119521.1,