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.
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.060 1.000 6 1994 2018
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.040 1.000 4 1999 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2015 2015
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2009 2009
Motor Neuron Disease, Lower
CUI: C0270764
Disease: Motor Neuron Disease, Lower
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2009 2009
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2012 2012