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rs118192160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192160(A;A)
Make rs118192160(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38442361
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192160
dbSNP (classic)rs118192160
ClinGenrs118192160
ebirs118192160
HLIrs118192160
Exacrs118192160
Gnomadrs118192160
Varsomers118192160
LitVarrs118192160
Maprs118192160
PheGenIrs118192160
Biobankrs118192160
1000 genomesrs118192160
hgdprs118192160
ensemblrs118192160
geneviewrs118192160
scholarrs118192160
googlers118192160
pharmgkbrs118192160
gwascentralrs118192160
openSNPrs118192160
23andMers118192160
SNPshotrs118192160
SNPdbers118192160
MSV3drs118192160
GWAS Ctlgrs118192160
Max Magnitude0
ClinVar
Risk rs118192160(A;A)
Alt rs118192160(A;A)
Reference Rs118192160(G;G)
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.38933001G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056179.1, RCV000119585.1,