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: 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: rs1554927408
rs1554927408 		0.742 0.480 10 121515254 missense variant C/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: 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: 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: 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: 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: rs121913478
rs121913478 		0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 13 1995 2007
dbSNP: rs121918495
rs121918495 		0.925 0.080 10 121517382 missense variant T/G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 13 1995 2007
dbSNP: rs121918506
rs121918506 		0.882 0.080 10 121496701 missense variant T/C;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 13 1995 2007
dbSNP: rs121918490
rs121918490 		0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 12 1994 2016
dbSNP: rs2981578
rs2981578 		0.925 0.080 10 121580797 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.790 0.909 11 2009 2018
dbSNP: rs2981578
rs2981578 		0.925 0.080 10 121580797 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.790 0.909 11 2007 2018
dbSNP: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;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 0.700 1.000 10 1995 2016
dbSNP: rs77543610
rs77543610 		0.667 0.560 10 121520160 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 0.710 1.000 10 1995 2015
dbSNP: rs2420946
rs2420946 		0.851 0.160 10 121591810 intron variant T/C snv 0.56
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 9 2007 2017
dbSNP: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.740 1.000 9 2009 2017
dbSNP: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 1994 2015
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: rs2420946
rs2420946 		0.851 0.160 10 121591810 intron variant T/C snv 0.56
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 8 2009 2017
dbSNP: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.740 1.000 7 2009 2017
dbSNP: rs1057519036
rs1057519036 		0.925 0.080 10 121520092 missense variant A/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 6 1998 2014
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: rs77543610
rs77543610 		0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.060 1.000 6 1996 2004