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rs118192156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192156(C;C)
Make rs118192156(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585058
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192156
dbSNP (classic)rs118192156
ClinGenrs118192156
ebirs118192156
HLIrs118192156
Exacrs118192156
Gnomadrs118192156
Varsomers118192156
LitVarrs118192156
Maprs118192156
PheGenIrs118192156
Biobankrs118192156
1000 genomesrs118192156
hgdprs118192156
ensemblrs118192156
geneviewrs118192156
scholarrs118192156
googlers118192156
pharmgkbrs118192156
gwascentralrs118192156
openSNPrs118192156
23andMers118192156
SNPshotrs118192156
SNPdbers118192156
MSV3drs118192156
GWAS Ctlgrs118192156
Max Magnitude0
ClinVar
Risk rs118192156(C;C)
Alt rs118192156(C;C)
Reference Rs118192156(T;T)
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.39075698T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056186.1, RCV000119560.1,