FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		Eye Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III 		0.700 0
dbSNP: rs121918503
rs121918503 		1.000 0.080 10 121520098 inframe deletion GTC/- delins
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		Stomatognathic Diseases 0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs121918505
rs121918505 		0.851 0.080 10 121520119 missense variant A/G snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0