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rs121913010

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs121913010(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31545820
GeneDSG2, DSG2-AS1
is asnp
is mentioned by
dbSNPrs121913010
dbSNP (classic)rs121913010
ClinGenrs121913010
ebirs121913010
HLIrs121913010
Exacrs121913010
Gnomadrs121913010
Varsomers121913010
LitVarrs121913010
Maprs121913010
PheGenIrs121913010
Biobankrs121913010
1000 genomesrs121913010
hgdprs121913010
ensemblrs121913010
geneviewrs121913010
scholarrs121913010
googlers121913010
pharmgkbrs121913010
gwascentralrs121913010
openSNPrs121913010
23andMers121913010
SNPshotrs121913010
SNPdbers121913010
MSV3drs121913010
GWAS Ctlgrs121913010
Max Magnitude6.7
OMIM125671
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913010(A;A) rs121913010(T;T)
Alt rs121913010(A;A) rs121913010(T;T)
Reference Rs121913010(G;G)
Significance Pathogenic
Disease not specified Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2-AS1 DSG2
CLNDBN not specified Arrhythmogenic right ventricular cardiomyopathy, type 10 Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29125783G>A; NC_000018.9:g.29125783G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000181231.1, RCV000456354.1, RCV000018307.28, RCV000037286.3,