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rs118192151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192151(A;A)
Make rs118192151(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584974
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192151
dbSNP (classic)rs118192151
ClinGenrs118192151
ebirs118192151
HLIrs118192151
Exacrs118192151
Gnomadrs118192151
Varsomers118192151
LitVarrs118192151
Maprs118192151
PheGenIrs118192151
Biobankrs118192151
1000 genomesrs118192151
hgdprs118192151
ensemblrs118192151
geneviewrs118192151
scholarrs118192151
googlers118192151
pharmgkbrs118192151
gwascentralrs118192151
openSNPrs118192151
23andMers118192151
SNPshotrs118192151
SNPdbers118192151
MSV3drs118192151
GWAS Ctlgrs118192151
Max Magnitude0
ClinVar
Risk rs118192151(A;A) rs118192151(C;C)
Alt rs118192151(A;A) rs118192151(C;C)
Reference Rs118192151(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.39075614G>A; NC_000019.9:g.39075614G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056235.1, RCV000119546.1, RCV000056234.1, RCV000119547.1,