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rs118192118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192118(C;T)
Make rs118192118(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38452854
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192118
dbSNP (classic)rs118192118
ClinGenrs118192118
ebirs118192118
HLIrs118192118
Exacrs118192118
Gnomadrs118192118
Varsomers118192118
LitVarrs118192118
Maprs118192118
PheGenIrs118192118
Biobankrs118192118
1000 genomesrs118192118
hgdprs118192118
ensemblrs118192118
geneviewrs118192118
scholarrs118192118
googlers118192118
pharmgkbrs118192118
gwascentralrs118192118
openSNPrs118192118
23andMers118192118
SNPshotrs118192118
SNPdbers118192118
MSV3drs118192118
GWAS Ctlgrs118192118
Max Magnitude0
ClinVar
Risk rs118192118(T;T)
Alt rs118192118(T;T)
Reference Rs118192118(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.38943494C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056239.1, RCV000119465.1,