USP40, ubiquitin specific peptidase 40, 55230

N. diseases: 5; N. variants: 15
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: rs6746234
rs6746234 		2 233524435 intron variant G/A snv 0.13
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1048603
rs1048603 		1.000 0.040 2 233485841 missense variant G/A;T snv 0.32; 1.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1545524
rs1545524 		2 233541107 intron variant G/A snv 0.87
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018