ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
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: rs150129663
rs150129663
22 41518528 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs1555890974
rs1555890974
22 41527919 frameshift variant AG/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 4 2012 2017