Source: CLINVAR

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: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 1.000 0 1994 2007
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.700 1.000 3 1994 2017
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
Abnormality of the posterior cranial fossa
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
Hypointensity of cerebral white matter on MRI
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0239676
Disease: High forehead
High forehead
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1837402
Disease: Flat occiput
Flat occiput
0.700 0