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rs118192141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192141(A;C)
Make rs118192141(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38575959
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192141
dbSNP (classic)rs118192141
ClinGenrs118192141
ebirs118192141
HLIrs118192141
Exacrs118192141
Gnomadrs118192141
Varsomers118192141
LitVarrs118192141
Maprs118192141
PheGenIrs118192141
Biobankrs118192141
1000 genomesrs118192141
hgdprs118192141
ensemblrs118192141
geneviewrs118192141
scholarrs118192141
googlers118192141
pharmgkbrs118192141
gwascentralrs118192141
openSNPrs118192141
23andMers118192141
SNPshotrs118192141
SNPdbers118192141
MSV3drs118192141
GWAS Ctlgrs118192141
Max Magnitude0
ClinVar
Risk rs118192141(C;C)
Alt rs118192141(C;C)
Reference Rs118192141(A;A)
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.39066599A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056204.1, RCV000119499.1,