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
259 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 0.972 252 1996 2018
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
12 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 0.824 17 2002 2016
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
87 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 1.000 12 1997 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
288 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 1.000 12 1997 2013
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
32 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 1.000 12 1994 2012
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
85 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.830 1.000 10 1993 2010
Amyotrophic Lateral Sclerosis, Sporadic
92 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.710 1.000 4 2002 2010
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.040 1.000 4 2007 2015
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
6 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2006 2014
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
79 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.700 3 2002 2010
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
41 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2010 2014
Paresis
CUI: C0030552
Disease: Paresis
22 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2001 2004
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
11 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.020 1.000 2 2007 2017
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
30 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
1839 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
180 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2005 2005
Neuropathy
CUI: C0442874
Disease: Neuropathy
58 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2009 2009
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
10 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Spinal Cord Ischemia
CUI: C0752130
Disease: Spinal Cord Ischemia
3 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1 2008 2008
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
120 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2012 2012
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
6 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2016 2016
Fatigue
CUI: C0015672
Disease: Fatigue
33 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
79 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2016 2016
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
20 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
59 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010