USP21, ubiquitin specific peptidase 21, 27005

N. diseases: 16; 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: rs1553232770
rs1553232770 		1.000 1 161157678 missense variant C/T snv
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.800 1.000 1 2018 2018