rs886039900, AHDC1

N. diseases: 8
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.
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
13 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Coxa valga
CUI: C0239137
Disease: Coxa valga
5 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Submucous cleft of hard palate
CUI: C0432103
Disease: Submucous cleft of hard palate
3 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0