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rs118192158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192158(A;A)
Make rs118192158(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585952
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192158
dbSNP (classic)rs118192158
ClinGenrs118192158
ebirs118192158
HLIrs118192158
Exacrs118192158
Gnomadrs118192158
Varsomers118192158
LitVarrs118192158
Maprs118192158
PheGenIrs118192158
Biobankrs118192158
1000 genomesrs118192158
hgdprs118192158
ensemblrs118192158
geneviewrs118192158
scholarrs118192158
googlers118192158
pharmgkbrs118192158
gwascentralrs118192158
openSNPrs118192158
23andMers118192158
SNPshotrs118192158
SNPdbers118192158
MSV3drs118192158
GWAS Ctlgrs118192158
Max Magnitude0
ClinVar
Risk rs118192158(A;A)
Alt rs118192158(A;A)
Reference Rs118192158(G;G)
Significance Pathogenic
Disease Central core disease not provided not specified
Variation info
Gene RYR1
CLNDBN Central core disease not provided not specified
Reversed 0
HGVS NC_000019.9:g.39076592G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000056174.1, RCV000119566.5, RCV000408639.1,