ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
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: rs28942074
rs28942074
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
Digestive System Diseases 0.020 1.000 2 2019 2020