POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Pituitary dwarfism ×
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: rs104893755
rs104893755 		0.851 0.200 3 87259959 missense variant G/A snv
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 1997 1997