rs121912438, SOD1

N. diseases: 58
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.
Paresis
CUI: C0030552
Disease: Paresis
49 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2000 2004
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 15 1994 2017
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 30 1996 2016
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2010 2016
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2012 2016
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
leukemia
CUI: C0023418
Disease: leukemia
144 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2003 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008