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rs730880200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880200(A;A)
Make rs730880200(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237828425
GeneRYR2
is asnp
is mentioned by
dbSNPrs730880200
dbSNP (classic)rs730880200
ClinGenrs730880200
ebirs730880200
HLIrs730880200
Exacrs730880200
Gnomadrs730880200
Varsomers730880200
LitVarrs730880200
Maprs730880200
PheGenIrs730880200
Biobankrs730880200
1000 genomesrs730880200
hgdprs730880200
ensemblrs730880200
geneviewrs730880200
scholarrs730880200
googlers730880200
pharmgkbrs730880200
gwascentralrs730880200
openSNPrs730880200
23andMers730880200
SNPshotrs730880200
SNPdbers730880200
MSV3drs730880200
GWAS Ctlgrs730880200
Max Magnitude0
ClinVar
Risk rs730880200(A;A)
Alt rs730880200(A;A)
Reference Rs730880200(C;C)
Significance Probable-Pathogenic
Disease Paroxysmal familial ventricular fibrillation 1 not specified
Variation info
Gene RYR2
CLNDBN Paroxysmal familial ventricular fibrillation 1 not specified
Reversed 0
HGVS NC_000001.10:g.237991725C>A
CLNSRC
CLNACC RCV000157469.1, RCV000489644.1,