rs397517030

Orientation

minus

Stabilized

minus

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

Make rs397517030(AC;AC)

Make rs397517030(AC;GCACTTGACTGTCGGCCAGGCGGCCGCAGGGGG)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32877897

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397517030
dbSNP (classic)	rs397517030
ClinGen	rs397517030
ebi	rs397517030
HLI	rs397517030
Exac	rs397517030
Gnomad	rs397517030
Varsome	rs397517030
LitVar	rs397517030
Map	rs397517030
PheGenI	rs397517030
Biobank	rs397517030
1000 genomes	rs397517030
hgdp	rs397517030
ensembl	rs397517030
geneview	rs397517030
scholar	rs397517030
google	rs397517030
pharmgkb	rs397517030
gwascentral	rs397517030
openSNP	rs397517030
23andMe	rs397517030
SNPshot	rs397517030
SNPdbe	rs397517030
MSV3d	rs397517030
GWAS Ctlg	rs397517030

Max Magnitude

0

ClinVar
Risk	rs397517030(AC;AC)
Alt	rs397517030(AC;AC)
Reference	Rs397517030(GCACTTGACTGTCGGCCAGGCGGCCGCAGGGGG;GCACTTGACTGTCGGCCAGGCGGCCGCAGGGGG)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.33030831_33030863del33insGT
CLNSRC	ClinVar
CLNACC	RCV000038232.2,