rs193922672

minus

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

Make rs193922672(A;A)

Make rs193922672(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32841103

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs193922672
dbSNP (classic)	rs193922672
ClinGen	rs193922672
ebi	rs193922672
HLI	rs193922672
Exac	rs193922672
Gnomad	rs193922672
Varsome	rs193922672
LitVar	rs193922672
Map	rs193922672
PheGenI	rs193922672
Biobank	rs193922672
1000 genomes	rs193922672
hgdp	rs193922672
ensembl	rs193922672
geneview	rs193922672
scholar	rs193922672
google	rs193922672
pharmgkb	rs193922672
gwascentral	rs193922672
openSNP	rs193922672
23andMe	rs193922672
SNPshot	rs193922672
SNPdbe	rs193922672
MSV3d	rs193922672
GWAS Ctlg	rs193922672

Max Magnitude

0

ClinVar
Risk	rs193922672(A;A)
Alt	rs193922672(A;A)
Reference	Rs193922672(G;G)
Significance	Other
Disease	Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed	1
HGVS	NC_000012.11:g.32994037C>T
CLNSRC	ClinVar
CLNACC	RCV000030359.5, RCV000183748.3, RCV000470376.1,

[PMID 20857] Interaction of drugs with apomorphine, tryptamine and norepinephrine. A new 'in vivo' approach: the ATN-test in rats.

[PMID 16549640] Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

[PMID 17010805] Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

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

[PMID 19358943] Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

[PMID 19863551] Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.