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rs118192134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192134(C;T)
Make rs118192134(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38572182
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192134
dbSNP (classic)rs118192134
ClinGenrs118192134
ebirs118192134
HLIrs118192134
Exacrs118192134
Gnomadrs118192134
Varsomers118192134
LitVarrs118192134
Maprs118192134
PheGenIrs118192134
Biobankrs118192134
1000 genomesrs118192134
hgdprs118192134
ensemblrs118192134
geneviewrs118192134
scholarrs118192134
googlers118192134
pharmgkbrs118192134
gwascentralrs118192134
openSNPrs118192134
23andMers118192134
SNPshotrs118192134
SNPdbers118192134
MSV3drs118192134
GWAS Ctlgrs118192134
Max Magnitude0
ClinVar
Risk rs118192134(T;T)
Alt rs118192134(T;T)
Reference Rs118192134(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.39062822C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056242.1, RCV000119488.1,