PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: rs63750197
rs63750197
0.925 0.120 1 226885570 missense variant C/T snv 6.8E-04 7.2E-04
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V
Cardiovascular Diseases 0.800 1.000 1 2006 2006