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: rs780497781
rs780497781 		0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs780497781
rs780497781 		0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs954917585
rs954917585 		10 121479973 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
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: rs1299249877
rs1299249877 		10 121480007 stop gained G/C snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1224606327
rs1224606327 		1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1554907337
rs1554907337 		1.000 0.280 10 121487390 missense variant G/A 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 0.700 0
dbSNP: rs868564661
rs868564661 		10 121487415 missense variant G/A snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
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: rs1057520029
rs1057520029 		0.925 0.120 10 121488003 missense variant T/A snv
CUI: C4016282
Disease: BREAST CANCER, SOMATIC
BREAST CANCER, SOMATIC 		0.010 1.000 1 2013 2013
dbSNP: rs1057520029
rs1057520029 		0.925 0.120 10 121488003 missense variant T/A snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2007 2007
dbSNP: rs1057520029
rs1057520029 		0.925 0.120 10 121488003 missense variant T/A snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1057520029
rs1057520029 		0.925 0.120 10 121488003 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057520027
rs1057520027 		10 121488005 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2007 2007
dbSNP: rs747718232
rs747718232 		1.000 0.120 10 121488017 missense variant T/C snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs747718232
rs747718232 		1.000 0.120 10 121488017 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs747718232
rs747718232 		1.000 0.120 10 121488017 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs758829154
rs758829154 		10 121488028 missense variant T/C snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs879253720
rs879253720 		1.000 0.280 10 121488028 inframe deletion TCT/- del
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: rs121918508
rs121918508 		0.851 0.360 10 121488035 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: rs121918508
rs121918508 		0.851 0.360 10 121488035 missense variant C/T snv
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918508
rs121918508 		0.851 0.360 10 121488035 missense variant C/T snv
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019