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rs190140598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs190140598(C;T)
Make rs190140598(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237445488
GeneRYR2
is asnp
is mentioned by
dbSNPrs190140598
dbSNP (classic)rs190140598
ClinGenrs190140598
ebirs190140598
HLIrs190140598
Exacrs190140598
Gnomadrs190140598
Varsomers190140598
LitVarrs190140598
Maprs190140598
PheGenIrs190140598
Biobankrs190140598
1000 genomesrs190140598
hgdprs190140598
ensemblrs190140598
geneviewrs190140598
scholarrs190140598
googlers190140598
pharmgkbrs190140598
gwascentralrs190140598
openSNPrs190140598
23andMers190140598
SNPshotrs190140598
SNPdbers190140598
MSV3drs190140598
GWAS Ctlgrs190140598
Max Magnitude0
ClinVar
Risk rs190140598(T;T)
Alt rs190140598(T;T)
Reference Rs190140598(C;C)
Significance Pathogenic
Disease not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237608788C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000182680.3, RCV000202619.1, RCV000219729.1,