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: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1985 2017
dbSNP: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 26 1985 2017
dbSNP: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1985 2017
dbSNP: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.710 1.000 12 1994 2016
dbSNP: rs121918487
rs121918487
FGFR2
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 		0.700 1.000 10 1995 2016
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.710 1.000 10 1995 2015
dbSNP: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.700 1.000 8 1994 2015
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: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.710 1.000 8 1995 2015
dbSNP: rs1057519036
rs1057519036
FGFR2
0.925 0.080 10 121520092 missense variant A/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 1.000 6 1998 2014
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: rs1057519037
rs1057519037
FGFR2
0.925 0.120 10 121520084 missense variant GC/AA;TA mnv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.700 1.000 4 1995 2014
dbSNP: rs1057519043
rs1057519043
FGFR2
0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 1.000 4 1995 2018
dbSNP: rs1057519043
rs1057519043
FGFR2
0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.700 1.000 4 1996 2013
dbSNP: rs121913476
rs121913476
FGFR2
0.851 0.080 10 121498520 missense variant A/C;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 4 2008 2013
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: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.710 1.000 4 1996 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: rs121918494
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 1.000 3 1994 2017
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 3 2008 2012
dbSNP: rs121913477
rs121913477
FGFR2
1.000 0.120 10 121515289 missense variant G/C;T snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 2 2011 2014
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 2 2011 2014
dbSNP: rs1358919643
rs1358919643
FGFR2
1.000 0.080 10 121517463 missense variant C/A;T snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 2 1995 1998
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 2 2011 2014
dbSNP: rs1057519045
rs1057519045
FGFR2
0.851 0.160 10 121498522 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016