rs121918487, FGFR2

N. diseases: 24
Source: INFERRED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.820 1.000 1 1994 2007
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.810 1.000 0 1995 2015
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 0 2014 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 0 2017 2017
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 1.000 10 1995 2016
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 1.000 8 1994 2015
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Brachyturricephaly
CUI: C1857484
Disease: Brachyturricephaly
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Choanal stenosis
CUI: C0584837
Disease: Choanal stenosis
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Depressed nasal tip
CUI: C1859717
Disease: Depressed nasal tip
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Short upper lip
CUI: C1848977
Disease: Short upper lip
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0