rs193922639

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs193922639(A;A)

Make rs193922639(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31531146

Gene

DSG2

is a	snp
is	mentioned by
dbSNP	rs193922639
dbSNP (classic)	rs193922639
ClinGen	rs193922639
ebi	rs193922639
HLI	rs193922639
Exac	rs193922639
Gnomad	rs193922639
Varsome	rs193922639
LitVar	rs193922639
Map	rs193922639
PheGenI	rs193922639
Biobank	rs193922639
1000 genomes	rs193922639
hgdp	rs193922639
ensembl	rs193922639
geneview	rs193922639
scholar	rs193922639
google	rs193922639
pharmgkb	rs193922639
gwascentral	rs193922639
openSNP	rs193922639
23andMe	rs193922639
SNPshot	rs193922639
SNPdbe	rs193922639
MSV3d	rs193922639
GWAS Ctlg	rs193922639

GMAF

0.0

Max Magnitude

0

ClinVar
Risk	rs193922639(A;A)
Alt	rs193922639(A;A)
Reference	Rs193922639(G;G)
Significance	Other
Disease	Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	DSG2
CLNDBN	Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 10
Reversed	0
HGVS	NC_000018.9:g.29111109G>A
CLNSRC	ClinVar LabCorp University of Washington
CLNACC	RCV000029667.3, RCV000037262.4, RCV000148472.3, RCV000472660.1,

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

[PMID 18382419 ] 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.