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rs118192127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192127(C;C)
Make rs118192127(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38527777
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192127
ebirs118192127
HLIrs118192127
Exacrs118192127
Varsomers118192127
Maprs118192127
PheGenIrs118192127
hapmaprs118192127
1000 genomesrs118192127
hgdprs118192127
ensemblrs118192127
gopubmedrs118192127
geneviewrs118192127
scholarrs118192127
googlers118192127
pharmgkbrs118192127
gwascentralrs118192127
openSNPrs118192127
23andMers118192127
23andMe allrs118192127
SNP Nexus

SNPshotrs118192127
SNPdbers118192127
MSV3drs118192127
GWAS Ctlgrs118192127
Max Magnitude0
ClinVar
Risk rs118192127(C;C)
Alt rs118192127(C;C)
Reference rs118192127(T;T)
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.39018417T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056205.1, RCV000119419.1,