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: rs77543610
rs77543610
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 1.000 30 1995 2018
dbSNP: rs121918499
rs121918499
0.925 0.160 10 121520048 missense variant C/A;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 16 1995 2019
dbSNP: rs121918501
rs121918501
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.830 1.000 18 1994 2014
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 19 1994 2007
dbSNP: rs121918488
rs121918488
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 19 1994 2015
dbSNP: rs121918496
rs121918496
0.851 0.120 10 121517377 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 17 1994 2007
dbSNP: rs121918502
rs121918502
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 15 1995 2014
dbSNP: rs776587763
rs776587763
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 15 1995 2014
dbSNP: rs121918488
rs121918488
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 17 1994 2012
dbSNP: rs121918497
rs121918497
0.776 0.160 10 121520052 missense variant T/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 17 1994 2007
dbSNP: rs121918505
rs121918505
0.851 0.080 10 121520119 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 0.810 1.000 17 1994 2019
dbSNP: rs121918490
rs121918490
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 16 1994 2007
dbSNP: rs121918492
rs121918492
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 16 1994 2007
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 14 1995 2015
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: 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: rs121918492
rs121918492
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 6 1994 1998
dbSNP: rs121913477
rs121913477
1.000 0.120 10 121515289 missense variant G/C;T snv
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: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
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 2007
dbSNP: rs2981582
rs2981582
0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.800 0.972 36 2007 2019
dbSNP: rs2981582
rs2981582
0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 0.971 35 2007 2019
dbSNP: rs1219648
rs1219648
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 25 2007 2018
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: rs1219648
rs1219648
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 24 2007 2018
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