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rs553299589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.7 Arrhythmogenic right ventricular dysplasia
(C;G) 6.7 Arrhythmogenic right ventricular dysplasia
(G;G) 0 common in clinvar


Make rs553299589(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position31521244
GeneDSG2
is asnp
is mentioned by
dbSNPrs553299589
dbSNP (classic)rs553299589
ClinGenrs553299589
ebirs553299589
HLIrs553299589
Exacrs553299589
Gnomadrs553299589
Varsomers553299589
LitVarrs553299589
Maprs553299589
PheGenIrs553299589
Biobankrs553299589
1000 genomesrs553299589
hgdprs553299589
ensemblrs553299589
geneviewrs553299589
scholarrs553299589
googlers553299589
pharmgkbrs553299589
gwascentralrs553299589
openSNPrs553299589
23andMers553299589
SNPshotrs553299589
SNPdbers553299589
MSV3drs553299589
GWAS Ctlgrs553299589
Max Magnitude6.7
ClinVar
Risk rs553299589(A;A) rs553299589(C;C) rs553299589(T;T)
Alt rs553299589(A;A) rs553299589(C;C) rs553299589(T;T)
Reference Rs553299589(G;G)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29101207G>A; NC_000018.9:g.29101207G>C
CLNSRC
CLNACC RCV000168625.2, RCV000168629.2,