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rs118192130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192130(A;A)
Make rs118192130(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38570620
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192130
dbSNP (classic)rs118192130
ClinGenrs118192130
ebirs118192130
HLIrs118192130
Exacrs118192130
Gnomadrs118192130
Varsomers118192130
LitVarrs118192130
Maprs118192130
PheGenIrs118192130
Biobankrs118192130
1000 genomesrs118192130
hgdprs118192130
ensemblrs118192130
geneviewrs118192130
scholarrs118192130
googlers118192130
pharmgkbrs118192130
gwascentralrs118192130
openSNPrs118192130
23andMers118192130
SNPshotrs118192130
SNPdbers118192130
MSV3drs118192130
GWAS Ctlgrs118192130
Max Magnitude0
ClinVar
Risk rs118192130(A;A)
Alt rs118192130(A;A)
Reference Rs118192130(G;G)
Significance Other
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39061260G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000056231.3, RCV000119483.2,