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: rs121913478
rs121913478 		0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913478
rs121913478 		0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121918488
rs121918488 		0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918488
rs121918488 		0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121918488
rs121918488 		0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918490
rs121918490 		0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121918492
rs121918492 		0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918496
rs121918496 		0.851 0.120 10 121517377 missense variant G/C snv
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918496
rs121918496 		0.851 0.120 10 121517377 missense variant G/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918497
rs121918497 		0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121918497
rs121918497 		0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918497
rs121918497 		0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121918497
rs121918497 		0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs121918497
rs121918497 		0.776 0.160 10 121520052 missense variant T/G snv
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: rs121918498
rs121918498 		1.000 0.080 10 121520162 missense variant CG/AA mnv
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs121918501
rs121918501 		0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918501
rs121918501 		0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918501
rs121918501 		0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2005 2005
dbSNP: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121918504
rs121918504 		0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2000 2000