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rs121913013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913013(A;A)
Make rs121913013(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31519887
GeneDSG2
is asnp
is mentioned by
dbSNPrs121913013
dbSNP (classic)rs121913013
ClinGenrs121913013
ebirs121913013
HLIrs121913013
Exacrs121913013
Gnomadrs121913013
Varsomers121913013
LitVarrs121913013
Maprs121913013
PheGenIrs121913013
Biobankrs121913013
1000 genomesrs121913013
hgdprs121913013
ensemblrs121913013
geneviewrs121913013
scholarrs121913013
googlers121913013
pharmgkbrs121913013
gwascentralrs121913013
openSNPrs121913013
23andMers121913013
SNPshotrs121913013
SNPdbers121913013
MSV3drs121913013
GWAS Ctlgrs121913013
GMAF0.0004591
Max Magnitude0
OMIM125671
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913013(A;A)
Alt rs121913013(A;A)
Reference Rs121913013(G;G)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia Cardiovascular phenotype
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 10 Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia, catecholaminergic polymorphic, 1 Cardiovascular phenotype
Reversed 0
HGVS NC_000018.9:g.29099850G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018311.25, RCV000018312.2, RCV000037270.4, RCV000148471.3, RCV000157179.1, RCV000157180.1, RCV000243248.1,