PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Tachycardia, Ventricular ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517025
rs397517025 		0.925 0.120 12 32878984 frameshift variant TGTA/- del
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs727504432
rs727504432 		0.882 0.120 12 32792712 frameshift variant T/- delins
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1036553117
rs1036553117 		1.000 0.080 12 32850771 missense variant A/T snv
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs730880179
rs730880179 		0.925 0.120 12 32896556 missense variant T/A snv 6.0E-05 1.5E-04
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008