Have questions? Visit https://www.reddit.com/r/SNPedia

rs200236750

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200236750(C;T)
Make rs200236750(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position237566672
GeneRYR2
is asnp
is mentioned by
dbSNPrs200236750
ebirs200236750
HLIrs200236750
Exacrs200236750
Varsomers200236750
Maprs200236750
PheGenIrs200236750
hapmaprs200236750
1000 genomesrs200236750
hgdprs200236750
ensemblrs200236750
gopubmedrs200236750
geneviewrs200236750
scholarrs200236750
googlers200236750
pharmgkbrs200236750
gwascentralrs200236750
openSNPrs200236750
23andMers200236750
23andMe allrs200236750
SNP Nexus

SNPshotrs200236750
SNPdbers200236750
MSV3drs200236750
GWAS Ctlgrs200236750
Max Magnitude0
ClinVar
Risk rs200236750(T;T)
Alt rs200236750(T;T)
Reference rs200236750(C;C)
Significance Pathogenic
Disease not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Death in infancy
Variation info
Gene RYR2
CLNDBN not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia Death in infancy
Reversed 0
HGVS NC_000001.10:g.237729972C>T
CLNSRC
CLNACC RCV000036728.3, RCV000171761.2, RCV000228614.1, RCV000234976.1,