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rs397516539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516539(A;A)
Make rs397516539(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237377365
GeneRYR2
is asnp
is mentioned by
dbSNPrs397516539
dbSNP (classic)rs397516539
ClinGenrs397516539
ebirs397516539
HLIrs397516539
Exacrs397516539
Gnomadrs397516539
Varsomers397516539
LitVarrs397516539
Maprs397516539
PheGenIrs397516539
Biobankrs397516539
1000 genomesrs397516539
hgdprs397516539
ensemblrs397516539
geneviewrs397516539
scholarrs397516539
googlers397516539
pharmgkbrs397516539
gwascentralrs397516539
openSNPrs397516539
23andMers397516539
SNPshotrs397516539
SNPdbers397516539
MSV3drs397516539
GWAS Ctlgrs397516539
Max Magnitude0
ClinVar
Risk rs397516539(A;A) rs397516539(T;T)
Alt rs397516539(A;A) rs397516539(T;T)
Reference Rs397516539(G;G)
Significance Pathogenic
Disease Catecholaminergic polymorphic ventricular tachycardia not provided
Variation info
Gene RYR2
CLNDBN Catecholaminergic polymorphic ventricular tachycardia not provided
Reversed 0
HGVS NC_000001.10:g.237540665G>A; NC_000001.10:g.237540665G>T
CLNSRC
CLNACC RCV000036762.2, RCV000182658.2, RCV000413267.1,