USP30, ubiquitin specific peptidase 30, 84749

N. diseases: 9; N. variants: 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: rs4388979
rs4388979 		12 109037207 intron variant G/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016