rs1553245038, ASH1L

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 52
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
13 1.000 1 155357741 frameshift variant AC/TGAGAA delins 0.700 0