SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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: rs1382415023
rs1382415023
1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 28 1988 2016