UBQLN1, ubiquilin 1, 29979

N. diseases: 49; N. variants: 3
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: rs1060499753
rs1060499753 		9 83683022 frameshift variant T/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs12344615
rs12344615 		0.851 0.080 9 83666280 intron variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 0.667 3 2007 2015
dbSNP: rs12344615
rs12344615 		0.851 0.080 9 83666280 intron variant A/C;G snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs12344615
rs12344615 		0.851 0.080 9 83666280 intron variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs12344615
rs12344615 		0.851 0.080 9 83666280 intron variant A/C;G snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs764735825
rs764735825 		0.882 0.120 9 83707518 missense variant C/A snv 2.1E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs764735825
rs764735825 		0.882 0.120 9 83707518 missense variant C/A snv 2.1E-05
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs764735825
rs764735825 		0.882 0.120 9 83707518 missense variant C/A snv 2.1E-05
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012