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: rs553119528
rs553119528
0.882 0.160 17 44352489 missense variant G/A snv 5.2E-05 6.3E-05
Primary Progressive Nonfluent Aphasia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2009 2010
dbSNP: rs1026683055
rs1026683055
0.882 0.200 17 44351429 missense variant C/T snv 1.6E-05 1.5E-05
Primary Progressive Nonfluent Aphasia
Pathological Conditions, Signs and Symptoms; 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
Primary Progressive Nonfluent Aphasia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs753070659
rs753070659
0.851 0.160 17 44350481 missense variant G/A;C snv 1.2E-05
Primary Progressive Nonfluent Aphasia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008