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rs121913009

From SNPedia

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


Make rs121913009(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31536298
GeneDSG2
is asnp
is mentioned by
dbSNPrs121913009
dbSNP (classic)rs121913009
ClinGenrs121913009
ebirs121913009
HLIrs121913009
Exacrs121913009
Gnomadrs121913009
Varsomers121913009
LitVarrs121913009
Maprs121913009
PheGenIrs121913009
Biobankrs121913009
1000 genomesrs121913009
hgdprs121913009
ensemblrs121913009
geneviewrs121913009
scholarrs121913009
googlers121913009
pharmgkbrs121913009
gwascentralrs121913009
openSNPrs121913009
23andMers121913009
SNPshotrs121913009
SNPdbers121913009
MSV3drs121913009
GWAS Ctlgrs121913009
Max Magnitude6.7
OMIM125671
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913009(A;A) rs121913009(T;T)
Alt rs121913009(A;A) rs121913009(T;T)
Reference Rs121913009(G;G)
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.29116261G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018306.29,