rs1554776954, STXBP1

N. diseases: 5
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 behavior
CUI: C0233514
Disease: Abnormal behavior
121 1.000 9 127661133 frameshift variant A/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 9 127661133 frameshift variant A/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 1.000 9 127661133 frameshift variant A/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 9 127661133 frameshift variant A/- delins 0.700 0
Tremor of hands
CUI: C0239842
Disease: Tremor of hands
7 1.000 9 127661133 frameshift variant A/- delins 0.700 0