rs121918494, FGFR2

N. diseases: 25
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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.790 0.160 10 121517363 missense variant G/C snv 0.800 1.000 16 1994 2007
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.790 0.160 10 121517363 missense variant G/C snv 0.700 1.000 3 1994 2017
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Abnormality of the posterior cranial fossa
1 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Abnormality of the zygomatic bone
CUI: C4023749
Disease: Abnormality of the zygomatic bone
1 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Brachyturricephaly
CUI: C1857484
Disease: Brachyturricephaly
2 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Choanal stenosis
CUI: C0584837
Disease: Choanal stenosis
2 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Cranial asymmetry
CUI: C1860245
Disease: Cranial asymmetry
3 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Deviated nasal septum
CUI: C0549397
Disease: Deviated nasal septum
1 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Dilation of lateral ventricles
CUI: C1856409
Disease: Dilation of lateral ventricles
3 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
6 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Hypointensity of cerebral white matter on MRI
1 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Mild fetal ventriculomegaly
CUI: C4023628
Disease: Mild fetal ventriculomegaly
1 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
4 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
5 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.790 0.160 10 121517363 missense variant G/C snv 0.010 1.000 1 2017 2017