rs886043994, ASXL1

N. diseases: 21
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.
Bohring syndrome
CUI: C0796232
Disease: Bohring syndrome
15 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
6 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Full cheeks
CUI: C1866231
Disease: Full cheeks
4 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Sleep Apnea Syndromes
CUI: C0037315
Disease: Sleep Apnea Syndromes
18 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Thick hair
CUI: C4073184
Disease: Thick hair
3 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
Ulnar deviation of the wrist
CUI: C0231678
Disease: Ulnar deviation of the wrist
9 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0