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rs121913011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs121913011(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31524554
GeneDSG2
is asnp
is mentioned by
dbSNPrs121913011
dbSNP (classic)rs121913011
ClinGenrs121913011
ebirs121913011
HLIrs121913011
Exacrs121913011
Gnomadrs121913011
Varsomers121913011
LitVarrs121913011
Maprs121913011
PheGenIrs121913011
Biobankrs121913011
1000 genomesrs121913011
hgdprs121913011
ensemblrs121913011
geneviewrs121913011
scholarrs121913011
googlers121913011
pharmgkbrs121913011
gwascentralrs121913011
openSNPrs121913011
23andMers121913011
SNPshotrs121913011
SNPdbers121913011
MSV3drs121913011
GWAS Ctlgrs121913011
Max Magnitude6.7
OMIM125671
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913011(G;G)
Alt rs121913011(G;G)
Reference Rs121913011(A;A)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 10
Reversed 0
HGVS NC_000018.9:g.29104517A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018308.28,