rs121918598

Orientation

plus

Stabilized

plus

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

Make rs121918598(C;C)

Make rs121918598(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

237648523

Gene

RYR2

is a	snp
is	mentioned by
dbSNP	rs121918598
dbSNP (classic)	rs121918598
ClinGen	rs121918598
ebi	rs121918598
HLI	rs121918598
Exac	rs121918598
Gnomad	rs121918598
Varsome	rs121918598
LitVar	rs121918598
Map	rs121918598
PheGenI	rs121918598
Biobank	rs121918598
1000 genomes	rs121918598
hgdp	rs121918598
ensembl	rs121918598
geneview	rs121918598
scholar	rs121918598
google	rs121918598
pharmgkb	rs121918598
gwascentral	rs121918598
openSNP	rs121918598
23andMe	rs121918598
SNPshot	rs121918598
SNPdbe	rs121918598
MSV3d	rs121918598
GWAS Ctlg	rs121918598

Max Magnitude

0

OMIM	180902
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918598(A;A) rs121918598(C;C)
Alt	rs121918598(A;A) rs121918598(C;C)
Reference	Rs121918598(G;G)
Significance	Pathogenic
Disease	Ventricular tachycardia
Variation	info
Gene	RYR2
CLNDBN	Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed	0
HGVS	NC_000001.10:g.237811823G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013821.17,