POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Pituitary Hormone Deficiency, Combined, 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: rs104893756
rs104893756 		1.000 0.120 3 87262203 missense variant C/G;T snv 2.4E-05; 8.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893757
rs104893757 		1.000 0.120 3 87276392 missense variant G/A snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893758
rs104893758 		1.000 0.120 3 87262098 missense variant A/G snv 4.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893759
rs104893759 		1.000 0.120 3 87264299 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893761
rs104893761 		1.000 0.120 3 87264323 missense variant A/C snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893762
rs104893762 		1.000 0.120 3 87260055 missense variant G/A snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893764
rs104893764 		1.000 0.120 3 87260082 stop gained C/T snv 2.4E-05 7.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893765
rs104893765 		1.000 0.120 3 87262160 missense variant C/T snv 4.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893766
rs104893766 		0.925 0.160 3 87262138 missense variant G/C snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.800 1.000 12 1992 2016
dbSNP: rs104893755
rs104893755 		0.851 0.200 3 87259959 missense variant G/A snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 1.000 12 1992 2016
dbSNP: rs1207179169
rs1207179169 		1.000 0.120 3 87262154 missense variant T/C snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 1.000 12 1992 2016
dbSNP: rs104893754
rs104893754 		1.000 0.120 3 87262161 stop gained G/A snv 4.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893760
rs104893760 		1.000 0.120 3 87260022 stop gained C/A snv 1.6E-05
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs104893763
rs104893763 		1.000 0.120 3 87264294 stop gained T/A snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs515726221
rs515726221 		1.000 0.120 3 87261272 splice donor variant C/A snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs587776798
rs587776798 		1.000 0.120 3 87260023 frameshift variant T/- delins
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs587776799
rs587776799 		1.000 0.120 3 87259994 frameshift variant -/T delins
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs754584667
rs754584667 		1.000 0.120 3 87264515 splice region variant G/A;C;T snv 1.6E-05
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs772390221
rs772390221 		0.925 0.160 3 87261296 frameshift variant CTTTC/- delins
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs780359925
rs780359925 		0.925 0.160 3 87259977 missense variant G/A snv 8.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0