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rs730880191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880191(A;A)
Make rs730880191(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237566623
GeneRYR2
is asnp
is mentioned by
dbSNPrs730880191
dbSNP (classic)rs730880191
ClinGenrs730880191
ebirs730880191
HLIrs730880191
Exacrs730880191
Gnomadrs730880191
Varsomers730880191
LitVarrs730880191
Maprs730880191
PheGenIrs730880191
Biobankrs730880191
1000 genomesrs730880191
hgdprs730880191
ensemblrs730880191
geneviewrs730880191
scholarrs730880191
googlers730880191
pharmgkbrs730880191
gwascentralrs730880191
openSNPrs730880191
23andMers730880191
SNPshotrs730880191
SNPdbers730880191
MSV3drs730880191
GWAS Ctlgrs730880191
Max Magnitude0
ClinVar
Risk rs730880191(A;A)
Alt rs730880191(A;A)
Reference Rs730880191(G;G)
Significance Probable-Pathogenic
Disease Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237729923G>A
CLNSRC
CLNACC RCV000157453.1,