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rs3765097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3765097(C;T)
Make rs3765097(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position237454457
GeneRYR2
is asnp
is mentioned by
dbSNPrs3765097
dbSNP (classic)rs3765097
ClinGenrs3765097
ebirs3765097
HLIrs3765097
Exacrs3765097
Gnomadrs3765097
Varsomers3765097
LitVarrs3765097
Maprs3765097
PheGenIrs3765097
Biobankrs3765097
1000 genomesrs3765097
hgdprs3765097
ensemblrs3765097
geneviewrs3765097
scholarrs3765097
googlers3765097
pharmgkbrs3765097
gwascentralrs3765097
openSNPrs3765097
23andMers3765097
SNPshotrs3765097
SNPdbers3765097
MSV3drs3765097
GWAS Ctlgrs3765097
Max Magnitude0

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


ClinVar
Risk rs3765097(T;T)
Alt rs3765097(T;T)
Reference Rs3765097(C;C)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not specified Cardiovascular phenotype Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237617757C>T
CLNSRC ClinVar
CLNACC RCV000036681.4, RCV000252560.1, RCV000306732.1, RCV000363710.1,