rs1555471098, CREBBP

N. diseases: 6
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.
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0