USP51, ubiquitin specific peptidase 51, 158880

N. diseases: 7; N. variants: 1
Disease: Short stature ×
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: rs1569197778
rs1569197778 		X 55488927 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0