ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
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: rs797045360
rs797045360
1.000 0.160 X 78015810 missense variant C/T snv
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017