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rs118192135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192135(A;A)
Make rs118192135(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38572185
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192135
dbSNP (classic)rs118192135
ClinGenrs118192135
ebirs118192135
HLIrs118192135
Exacrs118192135
Gnomadrs118192135
Varsomers118192135
LitVarrs118192135
Maprs118192135
PheGenIrs118192135
Biobankrs118192135
1000 genomesrs118192135
hgdprs118192135
ensemblrs118192135
geneviewrs118192135
scholarrs118192135
googlers118192135
pharmgkbrs118192135
gwascentralrs118192135
openSNPrs118192135
23andMers118192135
SNPshotrs118192135
SNPdbers118192135
MSV3drs118192135
GWAS Ctlgrs118192135
Max Magnitude0
ClinVar
Risk rs118192135(A;A)
Alt rs118192135(A;A)
Reference Rs118192135(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.39062825G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000056188.1, RCV000119490.1,