ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Neurologic Symptoms ×
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: rs76151636
rs76151636 		0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2001 2001