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rs118192115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192115(A;A)
Make rs118192115(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38446484
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192115
dbSNP (classic)rs118192115
ClinGenrs118192115
ebirs118192115
HLIrs118192115
Exacrs118192115
Gnomadrs118192115
Varsomers118192115
LitVarrs118192115
Maprs118192115
PheGenIrs118192115
Biobankrs118192115
1000 genomesrs118192115
hgdprs118192115
ensemblrs118192115
geneviewrs118192115
scholarrs118192115
googlers118192115
pharmgkbrs118192115
gwascentralrs118192115
openSNPrs118192115
23andMers118192115
SNPshotrs118192115
SNPdbers118192115
MSV3drs118192115
GWAS Ctlgrs118192115
Max Magnitude0
ClinVar
Risk rs118192115(A;A)
Alt rs118192115(A;A)
Reference Rs118192115(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.38937124G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000056187.1, RCV000119652.1,