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rs397516508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516508(C;C)
Make rs397516508(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237784256
GeneRYR2
is asnp
is mentioned by
dbSNPrs397516508
dbSNP (classic)rs397516508
ClinGenrs397516508
ebirs397516508
HLIrs397516508
Exacrs397516508
Gnomadrs397516508
Varsomers397516508
LitVarrs397516508
Maprs397516508
PheGenIrs397516508
Biobankrs397516508
1000 genomesrs397516508
hgdprs397516508
ensemblrs397516508
geneviewrs397516508
scholarrs397516508
googlers397516508
pharmgkbrs397516508
gwascentralrs397516508
openSNPrs397516508
23andMers397516508
SNPshotrs397516508
SNPdbers397516508
MSV3drs397516508
GWAS Ctlgrs397516508
Max Magnitude0
ClinVar
Risk rs397516508(C;C)
Alt rs397516508(C;C)
Reference Rs397516508(G;G)
Significance Probable-Pathogenic
Disease Catecholaminergic polymorphic ventricular tachycardia not provided
Variation info
Gene RYR2
CLNDBN Catecholaminergic polymorphic ventricular tachycardia not provided
Reversed 0
HGVS NC_000001.10:g.237947556G>C
CLNSRC
CLNACC RCV000036672.2, RCV000182821.1,