BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Disease: Alzheimer's Disease ×
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: rs1803274
rs1803274 		0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2004 2019
dbSNP: rs1126680
rs1126680 		0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs55781031
rs55781031 		0.925 0.080 3 165786432 intron variant A/G snv 5.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019