GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: Frontotemporal dementia ×
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: rs1567885658
rs1567885658 		1.000 0.120 17 44349518 frameshift variant -/T delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567886206
rs1567886206 		1.000 0.120 17 44350262 frameshift variant -/A delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567886445
rs1567886445 		1.000 0.120 17 44350501 stop gained -/TGTGAAGACAGGGTGCACTGCTGTC ins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567886478
rs1567886478 		1.000 0.120 17 44350539 frameshift variant T/- del
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567887015
rs1567887015 		1.000 0.120 17 44351102 frameshift variant -/A delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567887777
rs1567887777 		1.000 0.120 17 44351795 splice region variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1567888461
rs1567888461 		1.000 0.120 17 44352373 stop gained C/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs193026789
rs193026789 		1.000 0.120 17 44352047 stop gained C/A;T snv 2.0E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749801
rs63749801 		0.925 0.120 17 44350263 frameshift variant CAGT/- delins 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749817
rs63749817 		0.925 0.120 17 44350801 splice donor variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751035
rs63751035 		0.925 0.120 17 44351081 stop gained TG/-;TGTG delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs794729669
rs794729669 		1.000 0.120 17 44350341 splice donor variant G/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs794729670
rs794729670 		1.000 0.120 17 44351409 stop gained T/C;G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs794729671
rs794729671 		1.000 0.120 17 44352080 frameshift variant -/T delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs794729672
rs794729672 		1.000 0.120 17 44349249 frameshift variant -/C delins
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.040 1.000 4 2008 2016
dbSNP: rs1291370551
rs1291370551 		0.882 0.120 17 44349468 missense variant T/G snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2018
dbSNP: rs63751294
rs63751294 		0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs1026683055
rs1026683055 		0.882 0.200 17 44351429 missense variant C/T snv 1.6E-05 1.5E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1386649838
rs1386649838 		1.000 0.120 17 44351553 missense variant G/A;T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs63750043
rs63750043 		0.925 0.120 17 44350237 missense variant C/A snv 1.1E-03 7.6E-04
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs63750411
rs63750411 		0.925 0.120 17 44349730 stop gained C/T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs63750412
rs63750412 		1.000 0.120 17 44352132 missense variant C/T snv 5.5E-03; 4.0E-06 5.2E-03
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs63750541
rs63750541 		0.851 0.160 17 44351586 missense variant G/A;C snv 8.4E-04
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs750312986
rs750312986 		1.000 0.120 17 44351436 frameshift variant -/TG delins 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018