rs397516993

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;CAAA)	6.7	Arrhythmogenic right ventricular dysplasia
(CAAA;CAAA)	0	common in clinvar

Make rs397516993(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32850772

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397516993
dbSNP (classic)	rs397516993
ClinGen	rs397516993
ebi	rs397516993
HLI	rs397516993
Exac	rs397516993
Gnomad	rs397516993
Varsome	rs397516993
LitVar	rs397516993
Map	rs397516993
PheGenI	rs397516993
Biobank	rs397516993
1000 genomes	rs397516993
hgdp	rs397516993
ensembl	rs397516993
geneview	rs397516993
scholar	rs397516993
google	rs397516993
pharmgkb	rs397516993
gwascentral	rs397516993
openSNP	rs397516993
23andMe	rs397516993
SNPshot	rs397516993
SNPdbe	rs397516993
MSV3d	rs397516993
GWAS Ctlg	rs397516993

Max Magnitude

6.7

ClinVar
Risk	rs397516993(-;-)
Alt	rs397516993(-;-)
Reference	Rs397516993(CAAA;CAAA)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.33003706_33003709delTTTG
CLNSRC	ClinVar
CLNACC	RCV000038159.2,