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: rs996419100
rs996419100
ATP7B
1 1.000 0.160 13 51968512 stop gained G/A;C snv 0.700 1.000 2 2013 2016
dbSNP: rs1449610384
rs1449610384
ATP7B
1 1.000 0.160 13 51970504 stop gained G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs770020484
rs770020484
ATP7B
1 1.000 0.160 13 51957535 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs773385516
rs773385516
ATP7B
1 1.000 0.160 13 51968583 stop gained A/G;T snv 8.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs786204658
rs786204658
ATP7B
1 1.000 0.160 13 51939152 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs1057516305
rs1057516305
ATP7B
1 1.000 0.160 13 51970663 stop gained C/A snv 0.700 0
dbSNP: rs1057516380
rs1057516380
ATP7B
1 1.000 0.160 13 51958509 stop gained G/T snv 0.700 0
dbSNP: rs1057516479
rs1057516479
ATP7B
1 1.000 0.160 13 51941108 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1057516516
rs1057516516
ATP7B
1 1.000 0.160 13 51975117 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1180133690
rs1180133690
ATP7B
1 1.000 0.160 13 51958443 stop gained -/T delins 7.0E-06 0.700 0
dbSNP: rs1555288479
rs1555288479
ATP7B
1 1.000 0.160 13 51949784 stop gained G/A snv 0.700 0
dbSNP: rs1555296356
rs1555296356
ATP7B
1 1.000 0.160 13 51974379 stop gained G/A snv 0.700 0
dbSNP: rs911589273
rs911589273
ATP7B
1 1.000 0.160 13 51974250 stop gained T/A snv 0.700 0
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: rs28942076
rs28942076
ATP7B
1 1.000 0.160 13 51949700 missense variant C/A;T snv 8.0E-06 7.0E-06 0.800 1.000 40 1995 2019
dbSNP: rs121907994
rs121907994
ATP7B
1 1.000 0.160 13 51950116 missense variant G/A snv 6.8E-05 1.4E-05 0.810 1.000 37 1995 2017
dbSNP: rs201038679
rs201038679
ATP7B
1 1.000 0.160 13 51946369 missense variant G/A;T snv 3.6E-05 1.4E-05 0.820 1.000 37 1995 2017
dbSNP: rs137853285
rs137853285
ATP7B
1 1.000 0.160 13 51958538 missense variant C/T snv 1.6E-05 4.9E-05 0.800 1.000 36 1995 2017
dbSNP: rs201497300
rs201497300
ATP7B
2 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.820 1.000 35 1989 2016
dbSNP: rs541208827
rs541208827
ATP7B
1 1.000 0.160 13 51942482 missense variant C/T snv 1.2E-04 6.3E-05 0.800 1.000 35 1995 2017
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