SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893941
rs104893941 		0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs145056421
rs145056421 		0.925 0.080 5 179824013 missense variant G/A snv 2.9E-04 2.9E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs181263868
rs181263868 		0.925 0.080 5 179823020 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs376802604
rs376802604 		1.000 0.080 5 179822966 missense variant G/A snv 2.4E-05 1.3E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015