Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 1.000 1 1995 2018
dbSNP: rs121918499
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.840 1.000 0 1995 2019
dbSNP: rs121918501
rs121918501
FGFR2
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.830 1.000 0 1994 2014
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.820 1.000 4 1994 2015
dbSNP: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.820 1.000 1 1994 2007
dbSNP: rs121918496
rs121918496
FGFR2
0.851 0.120 10 121517377 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.820 1.000 0 1994 2007
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.820 1.000 0 1995 2014
dbSNP: rs776587763
rs776587763
FGFR2
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 		0.820 1.000 0 1995 2014
dbSNP: rs121913477
rs121913477
FGFR2
1.000 0.120 10 121515289 missense variant G/C;T snv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 1.000 0 1996 2008
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 1.000 0 1996 2007
dbSNP: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.810 1.000 0 1995 2015
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 0 1994 2012
dbSNP: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 0 1994 2007
dbSNP: rs121918492
rs121918492
FGFR2
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.810 1.000 0 1994 1998
dbSNP: rs121918492
rs121918492
FGFR2
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 		0.810 1.000 0 1994 2007
dbSNP: rs121918497
rs121918497
FGFR2
0.776 0.160 10 121520052 missense variant T/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 0 1994 2007
dbSNP: rs121918498
rs121918498
FGFR2
1.000 0.080 10 121520162 missense variant CG/AA mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 1.000 0 1995 2004
dbSNP: rs121918505
rs121918505
FGFR2
0.851 0.080 10 121520119 missense variant A/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 0 1994 2019
dbSNP: rs121918510
rs121918510
FGFR2
1.000 0.080 10 121517441 missense variant T/G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.810 1.000 0 1995 2007
dbSNP: rs79184941
rs79184941
FGFR2
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 		0.800 0.960 8 1995 2018
dbSNP: rs776587763
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 1.000 5 1994 2014
dbSNP: rs121918493
rs121918493
FGFR2
1.000 0.080 10 121517420 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 1.000 3 1994 2016
dbSNP: rs1057519036
rs1057519036
FGFR2
0.925 0.080 10 121520092 missense variant A/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 0
dbSNP: rs1057519047
rs1057519047
FGFR2
1.000 0.080 10 121488055 missense variant T/C;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.800 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.800 1.000 0 1995 2007