Source: BEFREE

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: rs760743322
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2014 2014
dbSNP: rs760743322
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.010 1.000 1 2014 2014
dbSNP: rs760743322
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.010 1.000 1 2014 2014
dbSNP: rs760743322
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 1.000 1 2014 2014