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rs118192138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192138(C;C)
Make rs118192138(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38572221
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192138
dbSNP (classic)rs118192138
ClinGenrs118192138
ebirs118192138
HLIrs118192138
Exacrs118192138
Gnomadrs118192138
Varsomers118192138
LitVarrs118192138
Maprs118192138
PheGenIrs118192138
Biobankrs118192138
1000 genomesrs118192138
hgdprs118192138
ensemblrs118192138
geneviewrs118192138
scholarrs118192138
googlers118192138
pharmgkbrs118192138
gwascentralrs118192138
openSNPrs118192138
23andMers118192138
SNPshotrs118192138
SNPdbers118192138
MSV3drs118192138
GWAS Ctlgrs118192138
Max Magnitude0
ClinVar
Risk rs118192138(C;C)
Alt rs118192138(C;C)
Reference Rs118192138(T;T)
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.39062861T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056208.1, RCV000119493.1,