rs1131691979, SYNGAP1

N. diseases: 1
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 33432198 frameshift variant A/- del 0.700 1.000 1 2014 2014