UBQLN1, ubiquilin 1, 29979

N. diseases: 49; N. variants: 3
Disease: Brown-Vialetto-Van Laere Syndrome 1 ×
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: 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