rs121912436, SOD1

N. diseases: 7
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 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.827 0.080 21 31667274 missense variant G/A;C snv 0.100 1.000 13 2000 2019
Amyotrophic Lateral Sclerosis, Familial
68 0.827 0.080 21 31667274 missense variant G/A;C snv 0.070 1.000 7 2000 2018
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2010 2010
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 1997 1997
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 1997 1997