rs397517012

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.7	Arrhythmogenic right ventricular dysplasia

Make rs397517012(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32822526

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397517012
dbSNP (classic)	rs397517012
ClinGen	rs397517012
ebi	rs397517012
HLI	rs397517012
Exac	rs397517012
Gnomad	rs397517012
Varsome	rs397517012
LitVar	rs397517012
Map	rs397517012
PheGenI	rs397517012
Biobank	rs397517012
1000 genomes	rs397517012
hgdp	rs397517012
ensembl	rs397517012
geneview	rs397517012
scholar	rs397517012
google	rs397517012
pharmgkb	rs397517012
gwascentral	rs397517012
openSNP	rs397517012
23andMe	rs397517012
SNPshot	rs397517012
SNPdbe	rs397517012
MSV3d	rs397517012
GWAS Ctlg	rs397517012

Max Magnitude

6.7

ClinVar
Risk	rs397517012(T;T)
Alt	rs397517012(T;T)
Reference	Rs397517012(C;C)
Significance	Pathogenic
Disease	not provided Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	not provided Arrhythmogenic right ventricular cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.32975460G>A
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000183763.3, RCV000211841.1,