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.
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
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
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
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
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