GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: Frontotemporal Lobar Degeneration ×
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: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.040 0.750 4 2009 2015
dbSNP: rs763841075
rs763841075 		0.851 0.120 17 44350293 missense variant T/C snv 1.8E-04 1.1E-04
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2018
dbSNP: rs533451404
rs533451404 		0.925 0.120 17 44349267 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs63750541
rs63750541 		0.851 0.160 17 44351586 missense variant G/A;C snv 8.4E-04
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63751180
rs63751180 		0.882 0.120 17 44352087 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63751243
rs63751243 		0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06
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
dbSNP: rs63751294
rs63751294 		0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs750810467
rs750810467 		1.000 0.120 17 44351420 missense variant G/A;C snv 4.8E-05; 4.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs753070659
rs753070659 		0.851 0.160 17 44350481 missense variant G/A;C snv 1.2E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008