Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
PAGET DISEASE OF BONE 3
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.800 1.000 27 2002 2016
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
20 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.800 1.000 13 2002 2015
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
58 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.100 1.000 25 2002 2018
Paget Disease
CUI: C1368019
Disease: Paget Disease
21 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.070 1.000 7 2004 2016
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2019 2019
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2011 2011
Dementia
CUI: C0497327
Disease: Dementia
176 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2016 2016
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2007 2007
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2016 2016