CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518789
rs1057518789
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
Musculoskeletal Diseases 0.700 0