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: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T 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: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T 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: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1837402
Disease: Flat occiput
Flat occiput 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		0.700 0