rs1554680245, KAT6A

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 32
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
12 1.000 8 41934777 frameshift variant T/- delins 0.700 0