rs869312674, 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 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 1.000 2 2014 2017
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 0