PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Deglutition Disorders ×
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: rs63750687
rs63750687 		0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014