rs121912443, SOD1

N. diseases: 15
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 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.732 0.160 21 31663857 missense variant A/G snv 0.100 1.000 12 1994 2005
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 2007 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 2001 2005
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 1996 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
10 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2012 2012
Familial Motor Neuron Disease
CUI: C0270763
Disease: Familial Motor Neuron Disease
2 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2012 2012
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
Paresis
CUI: C0030552
Disease: Paresis
49 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007