rs869025287, MED13L

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
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
26 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0