Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1425855043
rs1425855043
PKP2
1.000 0.080 12 32878105 stop gained C/A snv
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 1 2011 2011
dbSNP: rs1425855043
rs1425855043
PKP2
1.000 0.080 12 32878105 stop gained C/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0