rs869312714, CREBBP

N. diseases: 3
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.
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0
RUBINSTEIN-TAYBI SYNDROME 1
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
39 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0