rs1555243059, MED13L

N. diseases: 2
Source: CLINVAR ×
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 AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
26 1.000 12 115982406 frameshift variant AT/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 12 115982406 frameshift variant AT/- delins 0.700 0