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rs118192148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192148(G;T)
Make rs118192148(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584986
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192148
ebirs118192148
HLIrs118192148
Exacrs118192148
Varsomers118192148
Maprs118192148
PheGenIrs118192148
hapmaprs118192148
1000 genomesrs118192148
hgdprs118192148
ensemblrs118192148
gopubmedrs118192148
geneviewrs118192148
scholarrs118192148
googlers118192148
pharmgkbrs118192148
gwascentralrs118192148
openSNPrs118192148
23andMers118192148
23andMe allrs118192148
SNP Nexus

SNPshotrs118192148
SNPdbers118192148
MSV3drs118192148
GWAS Ctlgrs118192148
Max Magnitude0
ClinVar
Risk rs118192148(T;T)
Alt rs118192148(T;T)
Reference rs118192148(G;G)
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.39075626G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056194.1, RCV000119551.1,