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rs193922639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922639(A;A)
Make rs193922639(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31531146
GeneDSG2
is asnp
is mentioned by
dbSNPrs193922639
ebirs193922639
HLIrs193922639
Exacrs193922639
Varsomers193922639
Maprs193922639
PheGenIrs193922639
hapmaprs193922639
1000 genomesrs193922639
hgdprs193922639
ensemblrs193922639
gopubmedrs193922639
geneviewrs193922639
scholarrs193922639
googlers193922639
pharmgkbrs193922639
gwascentralrs193922639
openSNPrs193922639
23andMers193922639
23andMe allrs193922639
SNP Nexus

SNPshotrs193922639
SNPdbers193922639
MSV3drs193922639
GWAS Ctlgrs193922639
GMAF0.0
Max Magnitude0
ClinVar
Risk rs193922639(A;A)
Alt rs193922639(A;A)
Reference rs193922639(G;G)
Significance Other
Disease Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29111109G>A
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000029667.2, RCV000037262.3, RCV000148472.3,


[PMID 17105751] Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.


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


[PMID 20031616] Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.


[PMID 20129281] Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.