rs1569324457, ASXL1

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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Bohring syndrome
CUI: C0796232
Disease: Bohring syndrome
15 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Intestinal Volvulus
CUI: C0042961
Disease: Intestinal Volvulus
2 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
Spastic Quadriplegia
CUI: C0426970
Disease: Spastic Quadriplegia
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0