GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
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: rs34424835
rs34424835 		1.000 0.080 17 44350176 intron variant -/GTCA delins 0.32
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs63750043
rs63750043 		0.925 0.120 17 44350237 missense variant C/A snv 1.1E-03 7.6E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs63750479
rs63750479 		1.000 0.080 17 44350524 missense variant C/T snv 1.0E-03 3.5E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs850713
rs850713 		1.000 0.080 17 44350364 intron variant G/A;T snv 0.28; 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008