PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
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: rs786204388
rs786204388
12 32879000 frameshift variant CTCA/- delins
CUI: C0520806
Disease: Unexplained sudden death
Unexplained sudden death
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2010 2010