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.
Absent fifth toenail
CUI: C4021892
Disease: Absent fifth toenail
2 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Fullness of paranasal tissue
CUI: C4021065
Disease: Fullness of paranasal tissue
2 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Irregularly spaced teeth
CUI: C1845878
Disease: Irregularly spaced teeth
2 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
5 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Overbite
CUI: C1305740
Disease: Overbite
5 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Short distal phalanx of the 5th finger
2 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Temporal hypotrichosis
CUI: C4025316
Disease: Temporal hypotrichosis
2 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0