rs397516990

Orientation

minus

Stabilized

minus

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

Make rs397516990(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32850873

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397516990
dbSNP (classic)	rs397516990
ClinGen	rs397516990
ebi	rs397516990
HLI	rs397516990
Exac	rs397516990
Gnomad	rs397516990
Varsome	rs397516990
LitVar	rs397516990
Map	rs397516990
PheGenI	rs397516990
Biobank	rs397516990
1000 genomes	rs397516990
hgdp	rs397516990
ensembl	rs397516990
geneview	rs397516990
scholar	rs397516990
google	rs397516990
pharmgkb	rs397516990
gwascentral	rs397516990
openSNP	rs397516990
23andMe	rs397516990
SNPshot	rs397516990
SNPdbe	rs397516990
MSV3d	rs397516990
GWAS Ctlg	rs397516990

Max Magnitude

6.7

ClinVar
Risk	rs397516990(C;C)
Alt	rs397516990(C;C)
Reference	Rs397516990(T;T)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.33003807A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000038156.2,