PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Aborted sudden cardiac death ×
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: rs111517471
rs111517471 		0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05
CUI: C4703449
Disease: Aborted sudden cardiac death
Aborted sudden cardiac death 		Cardiovascular Diseases 0.700 1.000 17 2004 2013