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: rs397518453
rs397518453 		1.000 12 54283844 missense variant G/A snv
CUI: C3715156
Disease: AMYOTROPHIC LATERAL SCLEROSIS 20
AMYOTROPHIC LATERAL SCLEROSIS 20 		0.800 1.000 2 2013 2016
dbSNP: rs397518454
rs397518454 		1.000 12 54283860 missense variant A/G snv 8.0E-06 8.4E-05
CUI: C3715156
Disease: AMYOTROPHIC LATERAL SCLEROSIS 20
AMYOTROPHIC LATERAL SCLEROSIS 20 		0.800 1.000 2 2013 2016
dbSNP: rs397518452
rs397518452 		0.925 0.080 12 54283845 missense variant A/T snv
CUI: C3809469
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 		0.800 1.000 1 2013 2013
dbSNP: rs397518452
rs397518452 		0.925 0.080 12 54283845 missense variant A/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs483353029
rs483353029 		1.000 0.080 12 54283883 missense variant C/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7967622
rs7967622 		1.000 0.120 12 54284196 intron variant C/T snv 0.76
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011