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rs730880187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880187(C;T)
Make rs730880187(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237492973
GeneRYR2
is asnp
is mentioned by
dbSNPrs730880187
dbSNP (classic)rs730880187
ClinGenrs730880187
ebirs730880187
HLIrs730880187
Exacrs730880187
Gnomadrs730880187
Varsomers730880187
LitVarrs730880187
Maprs730880187
PheGenIrs730880187
Biobankrs730880187
1000 genomesrs730880187
hgdprs730880187
ensemblrs730880187
geneviewrs730880187
scholarrs730880187
googlers730880187
pharmgkbrs730880187
gwascentralrs730880187
openSNPrs730880187
23andMers730880187
SNPshotrs730880187
SNPdbers730880187
MSV3drs730880187
GWAS Ctlgrs730880187
Max Magnitude0
ClinVar
Risk rs730880187(T;T)
Alt rs730880187(T;T)
Reference Rs730880187(C;C)
Significance Probable-Pathogenic
Disease Ventricular tachycardia not provided
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1 not provided
Reversed 0
HGVS NC_000001.10:g.237656273C>T
CLNSRC
CLNACC RCV000157444.1, RCV000413365.1,