FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Apert syndrome ×
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: 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: 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: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 5 1996 2014
dbSNP: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2014 2014
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: rs1057519043
rs1057519043 		0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1995 2018
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 1994 2017
dbSNP: rs1057519044
rs1057519044 		0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913478
rs121913478 		0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434545235
rs1434545235 		0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554927408
rs1554927408 		0.742 0.480 10 121515254 missense variant C/T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387907372
rs387907372 		1.000 0.080 10 121520160 missense variant GGC/AAG mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: 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: 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: rs374608214
rs374608214 		0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776587763
rs776587763 		0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014