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.
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
2 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.700 1.000 2 2014 2015
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
13 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
Bulbo-Spinal Atrophy, X-Linked
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
30 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
Frontotemporal Dementia With Motor Neuron Disease
4 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2018 2018
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016