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rs118192154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192154(C;C)
Make rs118192154(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585037
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192154
dbSNP (classic)rs118192154
ClinGenrs118192154
ebirs118192154
HLIrs118192154
Exacrs118192154
Gnomadrs118192154
Varsomers118192154
LitVarrs118192154
Maprs118192154
PheGenIrs118192154
Biobankrs118192154
1000 genomesrs118192154
hgdprs118192154
ensemblrs118192154
geneviewrs118192154
scholarrs118192154
googlers118192154
pharmgkbrs118192154
gwascentralrs118192154
openSNPrs118192154
23andMers118192154
SNPshotrs118192154
SNPdbers118192154
MSV3drs118192154
GWAS Ctlgrs118192154
Max Magnitude0
ClinVar
Risk rs118192154(C;C)
Alt rs118192154(C;C)
Reference Rs118192154(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.39075677G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056238.1, RCV000119557.1,