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rs369512347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs369512347(A;G)
Make rs369512347(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237388129
GeneRYR2
is asnp
is mentioned by
dbSNPrs369512347
dbSNP (classic)rs369512347
ClinGenrs369512347
ebirs369512347
HLIrs369512347
Exacrs369512347
Gnomadrs369512347
Varsomers369512347
LitVarrs369512347
Maprs369512347
PheGenIrs369512347
Biobankrs369512347
1000 genomesrs369512347
hgdprs369512347
ensemblrs369512347
geneviewrs369512347
scholarrs369512347
googlers369512347
pharmgkbrs369512347
gwascentralrs369512347
openSNPrs369512347
23andMers369512347
SNPshotrs369512347
SNPdbers369512347
MSV3drs369512347
GWAS Ctlgrs369512347
Max Magnitude0
ClinVar
Risk rs369512347(C;C) rs369512347(G;G)
Alt rs369512347(C;C) rs369512347(G;G)
Reference Rs369512347(A;A)
Significance Probable-Pathogenic
Disease not provided not specified
Variation info
Gene RYR2
CLNDBN not provided not specified
Reversed 0
HGVS NC_000001.10:g.237551429A>C; NC_000001.10:g.237551429A>G
CLNSRC
CLNACC RCV000182664.1, RCV000036787.2,