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rs118192131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192131(C;C)
Make rs118192131(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38570650
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192131
ebirs118192131
HLIrs118192131
Exacrs118192131
Varsomers118192131
Maprs118192131
PheGenIrs118192131
hapmaprs118192131
1000 genomesrs118192131
hgdprs118192131
ensemblrs118192131
gopubmedrs118192131
geneviewrs118192131
scholarrs118192131
googlers118192131
pharmgkbrs118192131
gwascentralrs118192131
openSNPrs118192131
23andMers118192131
23andMe allrs118192131
SNP Nexus

SNPshotrs118192131
SNPdbers118192131
MSV3drs118192131
GWAS Ctlgrs118192131
Max Magnitude0
ClinVar
Risk rs118192131(C;C)
Alt rs118192131(C;C)
Reference rs118192131(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.39061290T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056206.1, RCV000119484.2,