rs1564351388, STXBP1

N. diseases: 4
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 coordination
CUI: C0520966
Disease: Abnormal coordination
4 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
37 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016