rs80265967, SOD1

N. diseases: 16
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 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
54 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.700 0
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.100 1.000 30 1995 2020
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.030 1.000 3 1998 2001
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.030 1.000 3 1996 2006
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.020 1.000 2 1996 2010
Bulbo-Spinal Atrophy, X-Linked
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
30 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2010 2010
Facial onset sensory and motor neuronopathy syndrome
CUI: C4509818
Disease: Facial onset sensory and motor neuronopathy syndrome
1 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2014 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 1996 1996
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2001 2001
Paresis
CUI: C0030552
Disease: Paresis
49 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2001 2001
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005