rs587783461, CREBBP

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.
Rubinstein-Taybi Syndrome
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
88 0.925 0.120 16 3793446 stop gained G/A snv 0.700 0
RUBINSTEIN-TAYBI SYNDROME 1
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
39 0.925 0.120 16 3793446 stop gained G/A snv 0.700 0