rs397516994

Orientation

minus

Stabilized

minus

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

Make rs397516994(C;C)

Make rs397516994(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32850765

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397516994
dbSNP (classic)	rs397516994
ClinGen	rs397516994
ebi	rs397516994
HLI	rs397516994
Exac	rs397516994
Gnomad	rs397516994
Varsome	rs397516994
LitVar	rs397516994
Map	rs397516994
PheGenI	rs397516994
Biobank	rs397516994
1000 genomes	rs397516994
hgdp	rs397516994
ensembl	rs397516994
geneview	rs397516994
scholar	rs397516994
google	rs397516994
pharmgkb	rs397516994
gwascentral	rs397516994
openSNP	rs397516994
23andMe	rs397516994
SNPshot	rs397516994
SNPdbe	rs397516994
MSV3d	rs397516994
GWAS Ctlg	rs397516994

Max Magnitude

0

ClinVar
Risk	rs397516994(C;C)
Alt	rs397516994(C;C)
Reference	Rs397516994(G;G)
Significance	Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype
Reversed	1
HGVS	NC_000012.11:g.33003699C>G
CLNSRC	ClinVar
CLNACC	RCV000038161.4, RCV000183806.3, RCV000244525.1,