rs17686573

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs17686573(C;T)

Make rs17686573(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

237492989

Gene

RYR2

is a	snp
is	mentioned by
dbSNP	rs17686573
dbSNP (classic)	rs17686573
ClinGen	rs17686573
ebi	rs17686573
HLI	rs17686573
Exac	rs17686573
Gnomad	rs17686573
Varsome	rs17686573
LitVar	rs17686573
Map	rs17686573
PheGenI	rs17686573
Biobank	rs17686573
1000 genomes	rs17686573
hgdp	rs17686573
ensembl	rs17686573
geneview	rs17686573
scholar	rs17686573
google	rs17686573
pharmgkb	rs17686573
gwascentral	rs17686573
openSNP	rs17686573
23andMe	rs17686573
SNPshot	rs17686573
SNPdbe	rs17686573
MSV3d	rs17686573
GWAS Ctlg	rs17686573

Max Magnitude

0

?	(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	Other
Disease	Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype
Variation	info
Gene	RYR2
CLNDBN	Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Cardiomyopathy, ARVC
Reversed	0
HGVS	NC_000001.10:g.237656289C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030416.1, RCV000036711.3, RCV000226767.3, RCV000246162.1, RCV000311993.1,