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rs118192121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192121(A;C)
Make rs118192121(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38496910
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192121
dbSNP (classic)rs118192121
ClinGenrs118192121
ebirs118192121
HLIrs118192121
Exacrs118192121
Gnomadrs118192121
Varsomers118192121
LitVarrs118192121
Maprs118192121
PheGenIrs118192121
Biobankrs118192121
1000 genomesrs118192121
hgdprs118192121
ensemblrs118192121
geneviewrs118192121
scholarrs118192121
googlers118192121
pharmgkbrs118192121
gwascentralrs118192121
openSNPrs118192121
23andMers118192121
SNPshotrs118192121
SNPdbers118192121
MSV3drs118192121
GWAS Ctlgrs118192121
Max Magnitude0
ClinVar
Risk rs118192121(C;C)
Alt rs118192121(C;C)
Reference Rs118192121(A;A)
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.38987550A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056215.1, RCV000119671.1,