Gene: ATP7B ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907990
rs121907990
ATP7B
2 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs28942074
rs28942074
ATP7B
4 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.010 1.000 1 2018 2018