rs397516643

Orientation

minus

Stabilized

minus

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

Make rs397516643(AC;AC)

Make rs397516643(AC;TCA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

115732927

Gene

CASQ2

is a	snp
is	mentioned by
dbSNP	rs397516643
dbSNP (classic)	rs397516643
ClinGen	rs397516643
ebi	rs397516643
HLI	rs397516643
Exac	rs397516643
Gnomad	rs397516643
Varsome	rs397516643
LitVar	rs397516643
Map	rs397516643
PheGenI	rs397516643
Biobank	rs397516643
1000 genomes	rs397516643
hgdp	rs397516643
ensembl	rs397516643
geneview	rs397516643
scholar	rs397516643
google	rs397516643
pharmgkb	rs397516643
gwascentral	rs397516643
openSNP	rs397516643
23andMe	rs397516643
SNPshot	rs397516643
SNPdbe	rs397516643
MSV3d	rs397516643
GWAS Ctlg	rs397516643

Max Magnitude

0

ClinVar
Risk	rs397516643(AC;AC)
Alt	rs397516643(AC;AC)
Reference	Rs397516643(TCA;TCA)
Significance	Probable-Pathogenic
Disease	Catecholaminergic polymorphic ventricular tachycardia
Variation	info
Gene	CASQ2
CLNDBN	Catecholaminergic polymorphic ventricular tachycardia
Reversed	1
HGVS	NC_000001.10:g.116275548_116275550delTGAinsGT
CLNSRC	ClinVar
CLNACC	RCV000037145.2,