GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
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: rs63751243
rs63751243 		0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.800 0
dbSNP: rs63750548
rs63750548 		0.925 17 44351035 splice acceptor variant A/G snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 10 2006 2017
dbSNP: rs63750548
rs63750548 		0.925 17 44351035 splice acceptor variant A/G snv
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 1.000 10 2006 2017
dbSNP: rs1555611412
rs1555611412 		0.925 17 44352339 splice acceptor variant A/G snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 5 2006 2012
dbSNP: rs1555611412
rs1555611412 		0.925 17 44352339 splice acceptor variant A/G snv
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 1.000 5 2006 2012
dbSNP: rs63751296
rs63751296 		0.925 17 44351362 splice acceptor variant G/C snv
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 1.000 5 2006 2013
dbSNP: rs63751296
rs63751296 		0.925 17 44351362 splice acceptor variant G/C snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 5 2006 2013
dbSNP: rs63750707
rs63750707 		0.925 17 44351461 splice donor variant G/A snv
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 1.000 3 2006 2012
dbSNP: rs63750707
rs63750707 		0.925 17 44351461 splice donor variant G/A snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 3 2006 2012
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs1392550887
rs1392550887 		0.925 17 44349241 frameshift variant -/C delins
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0
dbSNP: rs1392550887
rs1392550887 		0.925 17 44349241 frameshift variant -/C delins
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 0
dbSNP: rs1555611256
rs1555611256 		1.000 17 44351430 frameshift variant G/- delins
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 0
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: rs1567885728
rs1567885728 		1.000 0.080 17 44349552 splice donor variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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: rs1567887496
rs1567887496 		0.925 17 44351607 stop gained C/T snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0
dbSNP: rs1567887496
rs1567887496 		0.925 17 44351607 stop gained C/T snv
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		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: rs606231220
rs606231220 		1.000 17 44349253 frameshift variant -/CCTG delins
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.700 0