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: rs1057519036
rs1057519036
0.925 0.080 10 121520092 missense variant A/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs1057519047
rs1057519047
1.000 0.080 10 121488055 missense variant T/C;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs1057519037
rs1057519037
0.925 0.120 10 121520084 missense variant GC/AA;TA mnv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519039
rs1057519039
1.000 0.080 10 121520049 missense variant C/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519040
rs1057519040
1.000 0.080 10 121519995 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519041
rs1057519041
0.925 0.160 10 121517465 splice acceptor variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519041
rs1057519041
0.925 0.160 10 121517465 splice acceptor variant T/C snv
Congenital posterior urethral valves
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057519042
rs1057519042
1.000 0.080 10 121517396 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
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: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
Antley-Bixler Syndrome, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
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: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519044
rs1057519044
0.752 0.440 10 121517390 missense variant C/T snv
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: rs1057519045
rs1057519045
0.851 0.160 10 121498522 missense variant T/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
0.700 0
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0