APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
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: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.040 0.750 4 1994 2019
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.030 1.000 3 2014 2019
dbSNP: rs764929617
rs764929617
0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.030 0.667 3 2003 2014
dbSNP: rs199768005
rs199768005
0.882 0.160 19 44909057 missense variant T/A snv 4.5E-04 4.9E-04
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs387906567
rs387906567
0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017