FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
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: rs121917703
rs121917703 		1.000 0.200 11 69810559 missense variant A/G snv
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121917706
rs121917706 		1.000 0.200 11 69818917 missense variant A/G snv
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121917704
rs121917704 		1.000 0.200 11 69816334 stop gained G/A snv 2.4E-05 2.1E-05
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2011 2011
dbSNP: rs281860303
rs281860303 		1.000 0.200 11 69816361 missense variant G/A;T snv 4.0E-06; 4.0E-06 1.4E-05
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2011 2011
dbSNP: rs121917705
rs121917705 		1.000 0.200 11 69818738 missense variant C/A;T snv
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554981083
rs1554981083 		1.000 0.200 11 69816373 frameshift variant -/A delins
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860300
rs281860300 		1.000 0.200 11 69818788 missense variant T/C snv 7.0E-06
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860301
rs281860301 		1.000 0.200 11 69818784 stop gained G/A;T snv
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860302
rs281860302 		1.000 0.200 11 69816389 frameshift variant A/- delins
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860304
rs281860304 		1.000 0.200 11 69810631 frameshift variant G/- delins
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860305
rs281860305 		1.000 0.200 11 69810409 frameshift variant C/- delins
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860306
rs281860306 		1.000 0.200 11 69816327 missense variant T/C snv
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs281860307
rs281860307 		1.000 0.200 11 69810567 frameshift variant CA/- delins
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782712529
rs782712529 		1.000 0.200 11 69810563 stop gained G/A;C;T snv 3.2E-05 4.9E-05
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782712529
rs782712529 		1.000 0.200 11 69810563 stop gained G/A;C;T snv 3.2E-05 4.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0