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rs10754602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs10754602(A;A)
Make rs10754602(A;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position237388076
GeneRYR2
is asnp
is mentioned by
dbSNPrs10754602
dbSNP (classic)rs10754602
ClinGenrs10754602
ebirs10754602
HLIrs10754602
Exacrs10754602
Gnomadrs10754602
Varsomers10754602
LitVarrs10754602
Maprs10754602
PheGenIrs10754602
Biobankrs10754602
1000 genomesrs10754602
hgdprs10754602
ensemblrs10754602
geneviewrs10754602
scholarrs10754602
googlers10754602
pharmgkbrs10754602
gwascentralrs10754602
openSNPrs10754602
23andMers10754602
SNPshotrs10754602
SNPdbers10754602
MSV3drs10754602
GWAS Ctlgrs10754602
Max Magnitude0

[PMID 24978818OA-icon.png] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.

ClinVar
Risk rs10754602(A;A) rs10754602(C;C)
Alt rs10754602(A;A) rs10754602(C;C)
Reference Rs10754602(T;T)
Significance Probable-non-pathogenic
Disease not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not specified Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237551376T>A
CLNSRC ClinVar
CLNACC RCV000036781.4, RCV000300385.1, RCV000357582.1,