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: rs28942074
rs28942074
ATP7B
4 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.900 0.984 64 1995 2020
dbSNP: rs76151636
rs76151636
ATP7B
10 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.900 1.000 56 1993 2019
dbSNP: rs137853284
rs137853284
ATP7B
1 1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-06 0.800 1.000 48 1995 2017
dbSNP: rs121907993
rs121907993
ATP7B
1 1.000 0.160 13 51949772 missense variant G/A;C;T snv 6.0E-05; 2.8E-05; 4.0E-06 0.800 1.000 46 1995 2017
dbSNP: rs121907990
rs121907990
ATP7B
2 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.820 1.000 40 1993 2018
dbSNP: rs753594031
rs753594031
ATP7B
1 1.000 0.160 13 51944248 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 35 1995 2017
dbSNP: rs746485916
rs746485916
ATP7B
1 1.000 0.160 13 51944231 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.810 1.000 34 1995 2017
dbSNP: rs786204547
rs786204547
ATP7B
1 1.000 0.160 13 51941081 missense variant C/G;T snv 8.0E-06 0.800 1.000 34 1995 2017
dbSNP: rs1286080173
rs1286080173
ATP7B
2 0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.800 1.000 32 1995 2017
dbSNP: rs1555286628
rs1555286628
ATP7B
1 1.000 0.160 13 51944266 missense variant G/A snv 0.800 1.000 32 1995 2017
dbSNP: rs1555291147
rs1555291147
ATP7B
1 1.000 0.160 13 51958372 missense variant T/C snv 0.800 1.000 31 1995 2017
dbSNP: rs72552285
rs72552285
ATP7B
1 1.000 0.160 13 51961859 missense variant C/A;G;T snv 8.0E-06; 1.2E-05; 4.0E-06 0.800 1.000 30 1994 2017
dbSNP: rs778749563
rs778749563
ATP7B
1 1.000 0.160 13 51941211 missense variant C/A;G snv 1.6E-05 0.800 1.000 30 1995 2017
dbSNP: rs786204483
rs786204483
ATP7B
1 1.000 0.160 13 51942497 missense variant C/T snv 4.0E-06 0.800 1.000 30 1995 2017
dbSNP: rs1038582488
rs1038582488
ATP7B
1 1.000 0.160 13 51946405 missense variant C/T snv 4.0E-06 0.800 1.000 29 1995 2017
dbSNP: rs1555283916
rs1555283916
ATP7B
1 1.000 0.160 13 51937579 missense variant T/G snv 0.800 1.000 29 1995 2017
dbSNP: rs371840514
rs371840514
ATP7B
1 1.000 0.160 13 51946291 missense variant G/A;T snv 5.8E-05 0.800 1.000 29 1995 2017
dbSNP: rs1057520235
rs1057520235
ATP7B
1 1.000 0.160 13 51950277 missense variant A/G snv 0.800 1.000 28 1995 2017
dbSNP: rs1213481140
rs1213481140
ATP7B
1 1.000 0.160 13 51941201 missense variant C/T snv 8.0E-06 0.800 1.000 28 1995 2017
dbSNP: rs121907997
rs121907997
ATP7B
1 1.000 0.160 13 51958369 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.800 1.000 28 1995 2017
dbSNP: rs28942075
rs28942075
ATP7B
1 1.000 0.160 13 51958373 missense variant C/G;T snv 4.0E-06 0.800 1.000 28 1995 2017
dbSNP: rs540935874
rs540935874
ATP7B
1 1.000 0.160 13 51949775 missense variant C/G;T snv 0.800 1.000 28 1995 2017
dbSNP: rs121908001
rs121908001
ATP7B
1 1.000 0.160 13 51960198 missense variant C/T snv 0.800 1.000 27 1995 2017
dbSNP: rs376355660
rs376355660
ATP7B
1 1.000 0.160 13 51950117 missense variant C/G snv 4.0E-06 0.800 1.000 27 1995 2017
dbSNP: rs751078884
rs751078884
ATP7B
1 1.000 0.160 13 51946346 missense variant C/G;T snv 4.1E-06; 3.7E-05 0.800 1.000 27 1995 2017