Source: ALL

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: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C1857482
Disease: Slender finger
Slender finger 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0871976
Disease: facial features
facial features 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0