APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: AURAL ATRESIA, CONGENITAL ×
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: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2004 2018