FOXN1, forkhead box N1, 8456

N. diseases: 60; 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: rs1555609768
rs1555609768 		1.000 0.200 17 28527362 splice donor variant G/T snv
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 1999 2004
dbSNP: rs104894562
rs104894562 		0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1567886959
rs1567886959 		0.882 0.160 17 28534814 frameshift variant C/- delins
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		0.700 0
dbSNP: rs1567886959
rs1567886959 		0.882 0.160 17 28534814 frameshift variant C/- delins
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567886959
rs1567886959 		0.882 0.160 17 28534814 frameshift variant C/- delins
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		Immune System Diseases 0.700 0
dbSNP: rs1567887558
rs1567887558 		1.000 0.200 17 28535016 frameshift variant GGGCC/CCA delins
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs797046135
rs797046135 		1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs104894562
rs104894562 		0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2012 2012
dbSNP: rs104894562
rs104894562 		0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012