rs1057519405, SYNGAP1

N. diseases: 2
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.
Mental Retardation, Autosomal Dominant 5
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
64 1.000 0.160 6 33440735 frameshift variant C/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.160 6 33440735 frameshift variant C/- delins 0.700 0