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rs375021201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs375021201(A;A)
Make rs375021201(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237783759
GeneRYR2
is asnp
is mentioned by
dbSNPrs375021201
dbSNP (classic)rs375021201
ClinGenrs375021201
ebirs375021201
HLIrs375021201
Exacrs375021201
Gnomadrs375021201
Varsomers375021201
LitVarrs375021201
Maprs375021201
PheGenIrs375021201
Biobankrs375021201
1000 genomesrs375021201
hgdprs375021201
ensemblrs375021201
geneviewrs375021201
scholarrs375021201
googlers375021201
pharmgkbrs375021201
gwascentralrs375021201
openSNPrs375021201
23andMers375021201
SNPshotrs375021201
SNPdbers375021201
MSV3drs375021201
GWAS Ctlgrs375021201
Max Magnitude0
ClinVar
Risk rs375021201(A;A)
Alt rs375021201(A;A)
Reference Rs375021201(T;T)
Significance Probable-Pathogenic
Disease not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy
Variation info
Gene RYR2
CLNDBN not specified not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC
Reversed 0
HGVS NC_000001.10:g.237947059T>A
CLNSRC
CLNACC RCV000036670.2, RCV000182806.1, RCV000279641.1, RCV000378772.1,