Source: UNIPROT

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: rs776587763
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 1.000 16 1994 2007
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 13 1995 2007
dbSNP: rs121918495
rs121918495
FGFR2
0.925 0.080 10 121517382 missense variant T/G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.800 1.000 13 1995 2007
dbSNP: rs121918506
rs121918506
FGFR2
0.882 0.080 10 121496701 missense variant T/C;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.800 1.000 13 1995 2007
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 1.000 5 1994 1998
dbSNP: rs121918497
rs121918497
FGFR2
0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 1.000 5 1994 1998
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: rs121918507
rs121918507
FGFR2
0.882 0.280 10 121498591 missense variant T/C snv
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.800 1.000 2 2005 2007
dbSNP: rs121918508
rs121918508
FGFR2
0.851 0.360 10 121488035 missense variant C/T snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.800 1.000 2 2006 2007
dbSNP: rs121918509
rs121918509
FGFR2
1.000 0.280 10 121488095 missense variant C/T snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.800 1.000 2 2006 2007
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 1.000 1 2000 2000
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 1.000 1 2000 2000
dbSNP: rs387906677
rs387906677
FGFR2
1.000 10 121515232 missense variant A/C snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.800 1.000 1 2012 2012
dbSNP: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.800 1.000 1 2012 2012
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: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.710 1.000 16 1994 2014
dbSNP: rs1554928884
rs1554928884
FGFR2
1.000 0.080 10 121517384 missense variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.710 1.000 13 1995 2007
dbSNP: rs121918495
rs121918495
FGFR2
0.925 0.080 10 121517382 missense variant T/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 1.000 16 1994 2007
dbSNP: rs1554930684
rs1554930684
FGFR2
1.000 0.080 10 121520016 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 1.000 16 1994 2007
dbSNP: rs779326224
rs779326224
FGFR2
1.000 0.080 10 121520130 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 0