rs121909329, VCP

N. diseases: 11
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 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.800 1.000 18 2004 2018
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
7 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.800 1.000 6 2004 2015
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3152097
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
2 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.700 0
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 0.500 2 2010 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
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 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2012
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1 2013 2013