CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
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: rs869320802
rs869320802
1.000 4 1213028 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 3 1995 2017