rs1057518796, SYNGAP1

N. diseases: 3
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 1.000 6 33443751 frameshift variant C/- delins 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 6 33443751 frameshift variant C/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 6 33443751 frameshift variant C/- delins 0.700 0