rs2253273

Orientation

minus

Stabilized

minus

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

Make rs2253273(C;C)

Make rs2253273(C;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

237548497

Gene

RYR2

is a	snp
is	mentioned by
dbSNP	rs2253273
dbSNP (classic)	rs2253273
ClinGen	rs2253273
ebi	rs2253273
HLI	rs2253273
Exac	rs2253273
Gnomad	rs2253273
Varsome	rs2253273
LitVar	rs2253273
Map	rs2253273
PheGenI	rs2253273
Biobank	rs2253273
1000 genomes	rs2253273
hgdp	rs2253273
ensembl	rs2253273
geneview	rs2253273
scholar	rs2253273
google	rs2253273
pharmgkb	rs2253273
gwascentral	rs2253273
openSNP	rs2253273
23andMe	rs2253273
SNPshot	rs2253273
SNPdbe	rs2253273
MSV3d	rs2253273
GWAS Ctlg	rs2253273

Max Magnitude

0

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

ClinVar
Risk	rs2253273(A;A) rs2253273(C;C) rs2253273(G;G)
Alt	rs2253273(A;A) rs2253273(C;C) rs2253273(G;G)
Reference	Rs2253273(T;T)
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	1
HGVS	NC_000001.10:g.237711797A>G
CLNSRC	ClinVar
CLNACC	RCV000036722.4, RCV000244776.1, RCV000270161.1, RCV000364946.1,