rs397516992

Orientation

minus

Stabilized

minus

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

Make rs397516992(ATTTAGTT;ATTTAGTT)

Make rs397516992(ATTTAGTT;TAAATGGGG)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32850829

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs397516992
dbSNP (classic)	rs397516992
ClinGen	rs397516992
ebi	rs397516992
HLI	rs397516992
Exac	rs397516992
Gnomad	rs397516992
Varsome	rs397516992
LitVar	rs397516992
Map	rs397516992
PheGenI	rs397516992
Biobank	rs397516992
1000 genomes	rs397516992
hgdp	rs397516992
ensembl	rs397516992
geneview	rs397516992
scholar	rs397516992
google	rs397516992
pharmgkb	rs397516992
gwascentral	rs397516992
openSNP	rs397516992
23andMe	rs397516992
SNPshot	rs397516992
SNPdbe	rs397516992
MSV3d	rs397516992
GWAS Ctlg	rs397516992

Max Magnitude

0

ClinVar
Risk	rs397516992(ATTTAGTT;ATTTAGTT)
Alt	rs397516992(ATTTAGTT;ATTTAGTT)
Reference	Rs397516992(TAAATGGGG;TAAATGGGG)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.33003763_33003771delCCCCATTTAinsAACTAAAT
CLNSRC	ClinVar
CLNACC	RCV000038158.2,