rs797045498, CREBBP

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
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
88 1.000 0.120 16 3729110 frameshift variant -/A ins 0.700 0