FOXN1, forkhead box N1, 8456

N. diseases: 60; N. variants: 5
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy ×
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: 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