APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
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: rs1287723181
rs1287723181
1.000 0.080 21 25954680 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0023015
Disease: Language Disorders
Language Disorders
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs202218688
rs202218688
1.000 0.080 21 26000131 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0023015
Disease: Language Disorders
Language Disorders
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs533667466
rs533667466
0.925 0.080 21 25911912 missense variant T/C snv
CUI: C0023015
Disease: Language Disorders
Language Disorders
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008