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: rs5848
rs5848
0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs63751177
rs63751177
1.000 0.120 17 44351438 stop gained G/A snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs63751294
rs63751294
0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 1.000 1 2007 2007