rs1564919048, FGFR2

N. diseases: 23
Source: ALL
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.
Abnormal eyebrow morphology
CUI: C4011556
Disease: Abnormal eyebrow morphology
1 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Abnormal shape of the frontal region
CUI: C4023458
Disease: Abnormal shape of the frontal region
2 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
5 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.732 0.280 10 121520106 missense variant C/A snv 0.700 1.000 1 2015 2015
Diplopia
CUI: C0012569
Disease: Diplopia
5 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
12 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Hypoplasia of the maxilla
CUI: C0240310
Disease: Hypoplasia of the maxilla
5 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Laryngeal Obstruction
CUI: C0264306
Disease: Laryngeal Obstruction
2 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Recurrent upper respiratory tract infection
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
3 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0