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rs118192125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192125(A;A)
Make rs118192125(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38506952
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192125
dbSNP (classic)rs118192125
ClinGenrs118192125
ebirs118192125
HLIrs118192125
Exacrs118192125
Gnomadrs118192125
Varsomers118192125
LitVarrs118192125
Maprs118192125
PheGenIrs118192125
Biobankrs118192125
1000 genomesrs118192125
hgdprs118192125
ensemblrs118192125
geneviewrs118192125
scholarrs118192125
googlers118192125
pharmgkbrs118192125
gwascentralrs118192125
openSNPrs118192125
23andMers118192125
SNPshotrs118192125
SNPdbers118192125
MSV3drs118192125
GWAS Ctlgrs118192125
Max Magnitude0
ClinVar
Risk rs118192125(A;A)
Alt rs118192125(A;A)
Reference Rs118192125(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.38997592G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056229.1, RCV000119763.1,