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rs118192142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192142(C;T)
Make rs118192142(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580057
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192142
ebirs118192142
HLIrs118192142
Exacrs118192142
Varsomers118192142
Maprs118192142
PheGenIrs118192142
hapmaprs118192142
1000 genomesrs118192142
hgdprs118192142
ensemblrs118192142
gopubmedrs118192142
geneviewrs118192142
scholarrs118192142
googlers118192142
pharmgkbrs118192142
gwascentralrs118192142
openSNPrs118192142
23andMers118192142
23andMe allrs118192142
SNP Nexus

SNPshotrs118192142
SNPdbers118192142
MSV3drs118192142
GWAS Ctlgrs118192142
Max Magnitude0
ClinVar
Risk rs118192142(T;T)
Alt rs118192142(T;T)
Reference rs118192142(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.39070697C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056211.1, RCV000119514.1,