rs875989803, DDX3X

N. diseases: 15
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.
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
facial features
CUI: C0871976
Disease: facial features
1 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
MENTAL RETARDATION, X-LINKED 102
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
31 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Slender finger
CUI: C1857482
Disease: Slender finger
5 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0