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.
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Muscular ventricular septum defect
CUI: C0685707
Disease: Muscular ventricular septum defect
4 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
12 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Round ear
CUI: C4021959
Disease: Round ear
4 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Serum lipids high (finding)
CUI: C0428465
Disease: Serum lipids high (finding)
7 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
SHASHI-PENA SYNDROME
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
6 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
Weight Gain
CUI: C0043094
Disease: Weight Gain
12 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0