OSBP, oxysterol binding protein, 5007

N. diseases: 29; 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: rs1565117343
rs1565117343 		11 59594048 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0