rs121434549

Orientation

minus

Stabilized

minus

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

Make rs121434549(C;C)

Make rs121434549(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

115705212

Gene

CASQ2

is a	snp
is	mentioned by
dbSNP	rs121434549
dbSNP (classic)	rs121434549
ClinGen	rs121434549
ebi	rs121434549
HLI	rs121434549
Exac	rs121434549
Gnomad	rs121434549
Varsome	rs121434549
LitVar	rs121434549
Map	rs121434549
PheGenI	rs121434549
Biobank	rs121434549
1000 genomes	rs121434549
hgdp	rs121434549
ensembl	rs121434549
geneview	rs121434549
scholar	rs121434549
google	rs121434549
pharmgkb	rs121434549
gwascentral	rs121434549
openSNP	rs121434549
23andMe	rs121434549
SNPshot	rs121434549
SNPdbe	rs121434549
MSV3d	rs121434549
GWAS Ctlg	rs121434549

Max Magnitude

0

OMIM	114251
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434549(A;A) rs121434549(C;C)
Alt	rs121434549(A;A) rs121434549(C;C)
Reference	Rs121434549(G;G)
Significance	Pathogenic
Disease	Ventricular tachycardia
Variation	info
Gene	CASQ2
CLNDBN	Ventricular tachycardia, catecholaminergic polymorphic, 2
Reversed	1
HGVS	NC_000001.10:g.116247833C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019176.27,