rs1057519012, EP300

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 impairment
CUI: C0683322
Disease: Mental impairment
14 1.000 22 41147864 frameshift variant -/G delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 22 41147864 frameshift variant -/G delins 0.700 0