rs28730716

Orientation

minus

Stabilized

minus

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

Make rs28730716(A;G)

Make rs28730716(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

115726998

Gene

CASQ2

is a	snp
is	mentioned by
dbSNP	rs28730716
dbSNP (classic)	rs28730716
ClinGen	rs28730716
ebi	rs28730716
HLI	rs28730716
Exac	rs28730716
Gnomad	rs28730716
Varsome	rs28730716
LitVar	rs28730716
Map	rs28730716
PheGenI	rs28730716
Biobank	rs28730716
1000 genomes	rs28730716
hgdp	rs28730716
ensembl	rs28730716
geneview	rs28730716
scholar	rs28730716
google	rs28730716
pharmgkb	rs28730716
gwascentral	rs28730716
openSNP	rs28730716
23andMe	rs28730716
SNPshot	rs28730716
SNPdbe	rs28730716
MSV3d	rs28730716
GWAS Ctlg	rs28730716

GMAF

0.02342

Max Magnitude

0

ClinVar
Risk	rs28730716(G;G)
Alt	rs28730716(G;G)
Reference	Rs28730716(A;A)
Significance	Other
Disease	Cardiac arrhythmia not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not provided
Variation	info
Gene	CASQ2
CLNDBN	Cardiac arrhythmia not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not provided
Reversed	1
HGVS	NC_000001.10:g.116269619T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000029424.1, RCV000037146.10, RCV000217394.1, RCV000243545.1, RCV000268521.1, RCV000430947.1,