rs1057519594, SETBP1

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 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
8 1.000 18 44951356 frameshift variant -/T ins 0.700 1.000 1 2014 2014