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rs17686573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17686573(C;T)
Make rs17686573(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position237492989
GeneRYR2
is asnp
is mentioned by
dbSNPrs17686573
ebirs17686573
HLIrs17686573
Exacrs17686573
Varsomers17686573
Maprs17686573
PheGenIrs17686573
hapmaprs17686573
1000 genomesrs17686573
hgdprs17686573
ensemblrs17686573
gopubmedrs17686573
geneviewrs17686573
scholarrs17686573
googlers17686573
pharmgkbrs17686573
gwascentralrs17686573
openSNPrs17686573
23andMers17686573
23andMe allrs17686573
SNP Nexus

SNPshotrs17686573
SNPdbers17686573
MSV3drs17686573
GWAS Ctlgrs17686573
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 11157710] Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.

ClinVar
Risk rs17686573(T;T)
Alt rs17686573(T;T)
Reference rs17686573(C;C)
Significance Non-pathogenic
Disease Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237656289C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030416.1, RCV000036711.3, RCV000226767.1,