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: rs10736303
rs10736303 		0.882 0.120 10 121574943 intron variant G/A snv 0.40
CUI: C0024636
Disease: Malocclusion
Malocclusion 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474 		0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474 		0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474 		0.790 0.200 10 121515260 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 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474 		0.790 0.200 10 121515260 missense variant A/G snv
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505 		0.851 0.080 10 121520119 missense variant A/G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505 		0.851 0.080 10 121520119 missense variant A/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs121918508
rs121918508 		0.851 0.360 10 121488035 missense variant C/T snv
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: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2162540
rs2162540 		0.925 0.040 10 121592622 intron variant C/T snv 0.57
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2162540
rs2162540 		0.925 0.040 10 121592622 intron variant C/T snv 0.57
CUI: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2420946
rs2420946 		0.851 0.160 10 121591810 intron variant T/C snv 0.56
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3135718
rs3135718 		0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3135718
rs3135718 		0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C3850155
Disease: Congenital Microtia
Congenital Microtia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs371854567
rs371854567 		0.925 0.040 10 121496681 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs371854567
rs371854567 		0.925 0.040 10 121496681 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs374608214
rs374608214 		0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs374608214
rs374608214 		0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-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: 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