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rs121913012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913012(A;A)
Make rs121913012(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31524865
GeneDSG2
is asnp
is mentioned by
dbSNPrs121913012
ebirs121913012
HLIrs121913012
Exacrs121913012
Varsomers121913012
Maprs121913012
PheGenIrs121913012
hapmaprs121913012
1000 genomesrs121913012
hgdprs121913012
ensemblrs121913012
gopubmedrs121913012
geneviewrs121913012
scholarrs121913012
googlers121913012
pharmgkbrs121913012
gwascentralrs121913012
openSNPrs121913012
23andMers121913012
23andMe allrs121913012
SNP Nexus

SNPshotrs121913012
SNPdbers121913012
MSV3drs121913012
GWAS Ctlgrs121913012
Max Magnitude0
OMIM125671
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913012(A;A)
Alt rs121913012(A;A)
Reference rs121913012(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 10 Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29104828G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018309.28, RCV000029673.1,


[PMID 16505173] Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.


[PMID 18007692] Genetic diseases of junctions.


[PMID 18382419OA-icon.png] Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.


[PMID 20847325] The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease.