rs193922623

Orientation

plus

Stabilized

plus

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

Make rs193922623(A;A)

Make rs193922623(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

237500774

Gene

RYR2

is a	snp
is	mentioned by
dbSNP	rs193922623
dbSNP (classic)	rs193922623
ClinGen	rs193922623
ebi	rs193922623
HLI	rs193922623
Exac	rs193922623
Gnomad	rs193922623
Varsome	rs193922623
LitVar	rs193922623
Map	rs193922623
PheGenI	rs193922623
Biobank	rs193922623
1000 genomes	rs193922623
hgdp	rs193922623
ensembl	rs193922623
geneview	rs193922623
scholar	rs193922623
google	rs193922623
pharmgkb	rs193922623
gwascentral	rs193922623
openSNP	rs193922623
23andMe	rs193922623
SNPshot	rs193922623
SNPdbe	rs193922623
MSV3d	rs193922623
GWAS Ctlg	rs193922623

Max Magnitude

0

ClinVar
Risk	rs193922623(A;A)
Alt	rs193922623(A;A)
Reference	Rs193922623(G;G)
Significance	Probable-Pathogenic
Disease	Cardiac arrhythmia not specified Paroxysmal familial ventricular fibrillation 1 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia
Variation	info
Gene	RYR2
CLNDBN	Cardiac arrhythmia not specified Paroxysmal familial ventricular fibrillation 1 Cardiovascular phenotype Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia
Reversed	0
HGVS	NC_000001.10:g.237664074G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030418.1, RCV000036714.4, RCV000157446.1, RCV000242970.1, RCV000287643.1, RCV000379714.1,