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: rs1047100
rs1047100 		1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs755793
rs755793 		10 121551357 missense variant A/G snv 4.5E-02 0.10
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs148478597
rs148478597 		10 121479995 missense variant G/A;C snv 9.1E-05; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs55745510
rs55745510 		0.925 0.080 10 121520039 synonymous variant G/A snv 7.6E-05 2.1E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs55745510
rs55745510 		0.925 0.080 10 121520039 synonymous variant G/A snv 7.6E-05 2.1E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0.960 25 1995 2018
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 9 1995 2015
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.050 1.000 5 2004 2017
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 3 2008 2012
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 1998 2004
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.720 1.000 2 1997 2014
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2002 2013
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.020 1.000 2 2002 2013
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.020 1.000 2 2014 2017
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.020 1.000 2 2002 2013
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 2 2011 2014
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1997 2014
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2000 2000
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 1 2011 2011
dbSNP: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.010 1.000 1 2006 2006