rs886041065, ASXL2

N. diseases: 43
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.
Abnormal cornea morphology
CUI: C1855670
Disease: Abnormal cornea morphology
4 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Abnormality of copper homeostasis
CUI: C4023689
Disease: Abnormality of copper homeostasis
2 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Advanced bone age
CUI: C0545053
Disease: Advanced bone age
4 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
176 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Glabellar hemangioma
CUI: C1854408
Disease: Glabellar hemangioma
4 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Insulin Resistance
CUI: C0021655
Disease: Insulin Resistance
53 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Macule
CUI: C0332573
Disease: Macule
2 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0