rs1057518789, 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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0