Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909334
rs121909334
VCP
0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 24 2004 2018
dbSNP: rs121909335
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 23 2004 2018
dbSNP: rs121909330
rs121909330
VCP
0.752 0.200 9 35065364 missense variant G/A;C;T snv
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 22 2004 2018
dbSNP: rs121909329
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 18 2004 2018
dbSNP: rs121909332
rs121909332
VCP
1.000 0.200 9 35067910 missense variant G/A;C snv 4.0E-06
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 16 2004 2018
dbSNP: rs121909331
rs121909331
VCP
0.851 0.200 9 35064167 missense variant G/T snv
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.800 1.000 15 2004 2018
dbSNP: rs387906789
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.800 1.000 13 2005 2018
dbSNP: rs121909334
rs121909334
VCP
0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.800 1.000 11 2004 2016
dbSNP: rs121909329
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.800 1.000 6 2004 2015
dbSNP: rs864309502
rs864309502
VCP
1.000 9 35067903 missense variant C/T snv
CUI: C4225244
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y 		0.800 1.000 2 2014 2015
dbSNP: rs387906789
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.700 1.000 11 2005 2018
dbSNP: rs121909335
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 1.000 9 2005 2016
dbSNP: rs121909330
rs121909330
VCP
0.752 0.200 9 35065364 missense variant G/A;C;T snv
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 1.000 8 2004 2017
dbSNP: rs1554669087
rs1554669087
VCP
0.925 0.200 9 35067916 missense variant G/A snv
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 1.000 7 2006 2016
dbSNP: rs1554669087
rs1554669087
VCP
0.925 0.200 9 35067916 missense variant G/A snv
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.700 1.000 7 2006 2016
dbSNP: rs387906790
rs387906790
VCP
0.925 9 35059723 missense variant C/G;T snv 4.0E-06
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 1.000 2 2010 2013
dbSNP: rs779834525
rs779834525
FANCG ; VCP
1.000 0.120 9 35074489 stop gained G/A;C snv 2.0E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 2 2000 2001
dbSNP: rs863225291
rs863225291
VCP
0.925 0.200 9 35067922 missense variant T/A snv
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.700 1.000 2 2004 2009
dbSNP: rs864309501
rs864309501
VCP
0.925 0.080 9 35065274 missense variant C/T snv
CUI: C4225244
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y 		0.700 1.000 2 2014 2015
dbSNP: rs397507560
rs397507560
FANCG ; VCP
0.925 0.120 9 35074173 frameshift variant ACGGATCCAG/- delins 4.2E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 1 2003 2003
dbSNP: rs121909329
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv
CUI: C3152097
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 0
dbSNP: rs387906790
rs387906790
VCP
0.925 9 35059723 missense variant C/G;T snv 4.0E-06
CUI: C3152097
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA 		0.700 0
dbSNP: rs397507560
rs397507560
FANCG ; VCP
0.925 0.120 9 35074173 frameshift variant ACGGATCCAG/- delins 4.2E-05
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		0.700 0
dbSNP: rs758407400
rs758407400
FANCG ; VCP
1.000 0.080 9 35074158 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs786204205
rs786204205
FANCG ; VCP
1.000 0.120 9 35074384 stop gained C/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0