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rs118192149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192149(C;C)
Make rs118192149(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584967
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192149
dbSNP (classic)rs118192149
ClinGenrs118192149
ebirs118192149
HLIrs118192149
Exacrs118192149
Gnomadrs118192149
Varsomers118192149
LitVarrs118192149
Maprs118192149
PheGenIrs118192149
Biobankrs118192149
1000 genomesrs118192149
hgdprs118192149
ensemblrs118192149
geneviewrs118192149
scholarrs118192149
googlers118192149
pharmgkbrs118192149
gwascentralrs118192149
openSNPrs118192149
23andMers118192149
SNPshotrs118192149
SNPdbers118192149
MSV3drs118192149
GWAS Ctlgrs118192149
Max Magnitude0
ClinVar
Risk rs118192149(C;C)
Alt rs118192149(C;C)
Reference Rs118192149(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.39075607G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056192.1, RCV000119544.1,