rs121909334, VCP

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
9 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.800 1.000 24 2004 2018
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
7 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.800 1.000 11 2004 2016
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.020 1.000 2 2010 2013
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
Dementia
CUI: C0497327
Disease: Dementia
176 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
6 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
58 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013