POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
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: rs772390221
rs772390221
0.925 0.160 3 87261296 frameshift variant CTTTC/- delins
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104893755
rs104893755
0.851 0.200 3 87259959 missense variant G/A snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.040 0.750 4 1998 2015
dbSNP: rs104893766
rs104893766
0.925 0.160 3 87262138 missense variant G/C snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs780359925
rs780359925
0.925 0.160 3 87259977 missense variant G/A snv 8.0E-06
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012