BACE1, beta-secretase 1, 23621

N. diseases: 120; N. variants: 8
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: rs638405
rs638405
0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.030 1.000 3 2008 2017
dbSNP: rs759223338
rs759223338
0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2016
dbSNP: rs1335506651
rs1335506651
1.000 0.080 11 117295265 missense variant G/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs676134
rs676134
1.000 0.080 11 117309175 intron variant C/T snv 0.52
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2008 2008