rs587779766, AHDC1

N. diseases: 7
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
Sleep Apnea Syndromes
CUI: C0037315
Disease: Sleep Apnea Syndromes
18 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
13 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 0