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: rs1554928978
rs1554928978 		1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1985 2017
dbSNP: rs1554928978
rs1554928978 		1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 26 1985 2017
dbSNP: rs121918493
rs121918493 		1.000 0.080 10 121517420 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 0.800 1.000 18 1994 2016
dbSNP: rs121918489
rs121918489 		1.000 0.080 10 121517385 missense variant A/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 16 1994 2007
dbSNP: rs121918500
rs121918500 		1.000 0.080 10 121520044 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 0.800 1.000 16 1994 2007
dbSNP: rs1554930684
rs1554930684 		1.000 0.080 10 121520016 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 1.000 16 1994 2007
dbSNP: rs387906676
rs387906676 		1.000 0.080 10 121517394 missense variant C/G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 16 1994 2007
dbSNP: rs121918510
rs121918510 		1.000 0.080 10 121517441 missense variant T/G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 14 1995 2007
dbSNP: rs1554928884
rs1554928884 		1.000 0.080 10 121517384 missense variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 14 1995 2007
dbSNP: rs121918498
rs121918498 		1.000 0.080 10 121520162 missense variant CG/AA mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 8 1995 2004
dbSNP: rs121913477
rs121913477 		1.000 0.120 10 121515289 missense variant G/C;T snv
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 0.810 1.000 3 1996 2008
dbSNP: rs121913477
rs121913477 		1.000 0.120 10 121515289 missense variant G/C;T snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 2 2011 2014
dbSNP: rs121918509
rs121918509 		1.000 0.280 10 121488095 missense variant C/T snv
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 0.800 1.000 2 2006 2007
dbSNP: rs1358919643
rs1358919643 		1.000 0.080 10 121517463 missense variant C/A;T snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 1995 1998
dbSNP: rs751077552
rs751077552 		1.000 0.200 10 121496717 missense variant G/A snv 8.0E-06
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.020 1.000 2 2005 2012
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: rs10510097
rs10510097 		1.000 0.080 10 121568362 intron variant C/T snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519791
rs1057519791 		1.000 0.080 10 121518810 missense variant G/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519795
rs1057519795 		1.000 10 121488002 missense variant T/C snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519796
rs1057519796 		1.000 10 121496546 missense variant A/T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519797
rs1057519797 		1.000 10 121496705 missense variant C/T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519798
rs1057519798 		1.000 10 121498528 missense variant T/C snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519799
rs1057519799 		1.000 10 121498556 missense variant C/A;G;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519800
rs1057519800 		1.000 10 121498562 missense variant C/A;G;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057520044
rs1057520044 		1.000 0.080 10 121498597 missense variant T/C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2007 2007