NFIX, nuclear factor I X, 4784

N. diseases: 23; N. variants: 25
Source: CLINVAR ×
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: rs1555696625
rs1555696625
0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568269273
rs1568269273
0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0