rs1555902247, EP300

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.
RUBINSTEIN-TAYBI SYNDROME 2
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
31 1.000 0.120 22 41093071 frameshift variant TC/- delins 0.700 0