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rs118192143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192143(C;T)
Make rs118192143(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580395
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192143
ebirs118192143
HLIrs118192143
Exacrs118192143
Varsomers118192143
Maprs118192143
PheGenIrs118192143
hapmaprs118192143
1000 genomesrs118192143
hgdprs118192143
ensemblrs118192143
gopubmedrs118192143
geneviewrs118192143
scholarrs118192143
googlers118192143
pharmgkbrs118192143
gwascentralrs118192143
openSNPrs118192143
23andMers118192143
23andMe allrs118192143
SNP Nexus

SNPshotrs118192143
SNPdbers118192143
MSV3drs118192143
GWAS Ctlgrs118192143
Max Magnitude0
ClinVar
Risk rs118192143(G,T;G,T)
Alt rs118192143(G,T;G,T)
Reference rs118192143(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.39071035C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056172.1, RCV000119525.1,