ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
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: rs1250700280
rs1250700280 		1.000 0.080 12 111525290 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 2015 2015
dbSNP: rs374385876
rs374385876 		1.000 0.080 12 111525287 missense variant T/C snv 4.1E-06 3.5E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs695871
rs695871 		1.000 0.080 12 111599196 missense variant G/C snv 0.77 0.61
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs695872
rs695872 		0.925 0.120 12 111599125 synonymous variant G/A snv 0.79 0.61
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011