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: 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: rs5848
rs5848
0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.080 1.000 8 2009 2017
dbSNP: rs63751294
rs63751294
0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 0.500 2 2006 2007
dbSNP: rs1291370551
rs1291370551
0.882 0.120 17 44349468 missense variant T/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1372439127
rs1372439127
0.925 0.080 17 44352420 missense variant A/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs4792939
rs4792939
1.000 0.080 17 44347945 intron variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs533451404
rs533451404
0.925 0.120 17 44349267 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs756612865
rs756612865
1.000 0.080 17 44352530 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007