GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: Primary Progressive Aphasia (disorder) ×
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: rs63749877
rs63749877 		0.882 0.120 17 44351139 frameshift variant CACT/- delins
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751085
rs63751085 		0.925 0.120 17 44350767 frameshift variant CA/- del
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs764232836
rs764232836 		1.000 0.120 17 44349713 missense variant A/G snv 4.0E-06
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019