SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
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: rs1556518231
rs1556518231 		1.000 0.240 X 140504612 missense variant G/T snv
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs200361128
rs200361128 		1.000 0.040 X 140504904 missense variant C/G snv 7.4E-03 4.0E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs112180170
rs112180170 		1.000 0.120 X 140505047 missense variant C/G;T snv 3.1E-05; 2.9E-03
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs200361128
rs200361128 		1.000 0.040 X 140504904 missense variant C/G snv 7.4E-03 4.0E-03
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs73637709
rs73637709 		1.000 0.080 X 140504934 missense variant C/G;T snv 6.7E-06; 6.3E-03
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs761630818
rs761630818 		1.000 0.160 X 140503879 synonymous variant G/T snv
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000