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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 13 2002 2018
Amyotrophic Lateral Sclerosis, Familial
68 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 10 1999 2009
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.732 0.240 16 1792325 missense variant T/C;G snv 0.030 1.000 3 2002 2007
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2002 2009
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2012 2016
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
6 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2007 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2016 2016
Behavioral Symptoms
CUI: C0004941
Disease: Behavioral Symptoms
9 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2002 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 1998 1998
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
15 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2013 2013
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2013 2013
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2007 2007
Paresis
CUI: C0030552
Disease: Paresis
49 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2000 2000
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018