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rs118192147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192147(C;T)
Make rs118192147(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584955
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192147
ebirs118192147
HLIrs118192147
Exacrs118192147
Varsomers118192147
Maprs118192147
PheGenIrs118192147
hapmaprs118192147
1000 genomesrs118192147
hgdprs118192147
ensemblrs118192147
gopubmedrs118192147
geneviewrs118192147
scholarrs118192147
googlers118192147
pharmgkbrs118192147
gwascentralrs118192147
openSNPrs118192147
23andMers118192147
23andMe allrs118192147
SNP Nexus

SNPshotrs118192147
SNPdbers118192147
MSV3drs118192147
GWAS Ctlgrs118192147
Max Magnitude0
ClinVar
Risk rs118192147(T;T)
Alt rs118192147(T;T)
Reference rs118192147(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.39075595C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056199.1, RCV000119542.1,