rs121912431, SOD1

N. diseases: 11
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 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.742 0.160 21 31663829 missense variant G/A;C snv 0.100 1.000 17 1997 2017
Amyotrophic Lateral Sclerosis, Familial
68 0.742 0.160 21 31663829 missense variant G/A;C snv 0.060 1.000 6 1997 2008
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.742 0.160 21 31663829 missense variant G/A;C snv 0.740 1.000 5 1995 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.742 0.160 21 31663829 missense variant G/A;C snv 0.040 1.000 4 2002 2011
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.742 0.160 21 31663829 missense variant G/A;C snv 0.040 1.000 4 2002 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.742 0.160 21 31663829 missense variant G/A;C snv 0.040 1.000 4 2002 2011
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.742 0.160 21 31663829 missense variant G/A;C snv 0.020 1.000 2 2000 2001
Mitochondrial Respiratory Chain Deficiencies
3 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2011 2011
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2010 2010
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2003 2003