rs104893755, POU1F1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
24 0.851 0.200 3 87259959 missense variant G/A snv 0.700 1.000 12 1992 2016
Panhypopituitarism
CUI: C0242343
Disease: Panhypopituitarism
23 0.851 0.200 3 87259959 missense variant G/A snv 0.040 0.750 4 1998 2015
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
10 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 2003 2003
Growth failure
CUI: C0878787
Disease: Growth failure
7 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 2003 2003
Pituitary dwarfism
CUI: C0013338
Disease: Pituitary dwarfism
12 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 1997 1997