DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
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: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2003 2016
dbSNP: rs121909344
rs121909344 		0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2004 2012
dbSNP: rs72466496
rs72466496 		1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2004 2012
dbSNP: rs121909343
rs121909343 		1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs121909345
rs121909345 		0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2004 2005