HDAC8, histone deacetylase 8, 55869

N. diseases: 35; N. variants: 28
Source: CLINVAR ×
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: rs869312660
rs869312660
0.925 0.160 X 72488932 splice donor variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0