rs1060501188

Orientation

minus

Stabilized

minus

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

Make rs1060501188(A;C)

Make rs1060501188(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

32792494

Gene

PKP2

is a	snp
is	mentioned by
dbSNP	rs1060501188
dbSNP (classic)	rs1060501188
ClinGen	rs1060501188
ebi	rs1060501188
HLI	rs1060501188
Exac	rs1060501188
Gnomad	rs1060501188
Varsome	rs1060501188
LitVar	rs1060501188
Map	rs1060501188
PheGenI	rs1060501188
Biobank	rs1060501188
1000 genomes	rs1060501188
hgdp	rs1060501188
ensembl	rs1060501188
geneview	rs1060501188
scholar	rs1060501188
google	rs1060501188
pharmgkb	rs1060501188
gwascentral	rs1060501188
openSNP	rs1060501188
23andMe	rs1060501188
SNPshot	rs1060501188
SNPdbe	rs1060501188
MSV3d	rs1060501188
GWAS Ctlg	rs1060501188

Max Magnitude

0

ClinVar
Risk	rs1060501188(C;C)
Alt	rs1060501188(C;C)
Reference	Rs1060501188(A;A)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	PKP2
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed	1
HGVS	NC_000012.11:g.32945428T>G
CLNSRC
CLNACC	RCV000477569.1,