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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
1 1.000 0.160 13 52012013 splice region variant T/C snv 9.1E-05 0.700 1.000 3 2014 2018
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: rs1045194246
rs1045194246
ATP7B
1 1.000 0.160 13 51944303 non coding transcript exon variant A/C;T snv 4.1E-06; 4.1E-06 0.700 1.000 4 2002 2013
dbSNP: rs1052485948
rs1052485948
ATP7B
1 1.000 0.160 13 51949764 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs1057516227
rs1057516227
ATP7B
1 1.000 0.160 13 51937354 frameshift variant TG/- del 0.700 0
dbSNP: rs1057516228
rs1057516228
ATP7B
1 1.000 0.160 13 51937349 frameshift variant C/- delins 0.700 0
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: rs1057516418
rs1057516418
ATP7B
1 1.000 0.160 13 51970522 frameshift variant -/A delins 0.700 1.000 1 1995 1995
dbSNP: rs1057516425
rs1057516425
ATP7B
1 1.000 0.160 13 51950006 splice donor variant C/T snv 0.700 1.000 2 2003 2015
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: rs1057516561
rs1057516561
ATP7B
1 1.000 0.160 13 51975045 frameshift variant -/G delins 0.700 1.000 2 2005 2014
dbSNP: rs1057516643
rs1057516643
ATP7B
1 1.000 0.160 13 51949717 frameshift variant A/- del 0.700 1.000 6 2001 2016
dbSNP: rs1057516732
rs1057516732
ATP7B
1 1.000 0.160 13 51957515 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516740
rs1057516740
ATP7B
1 1.000 0.160 13 51937579 frameshift variant T/- del 0.700 0
dbSNP: rs1057516844
rs1057516844
ATP7B
1 1.000 0.160 13 51958363 missense variant G/A snv 0.700 1.000 4 2007 2016
dbSNP: rs1057516893
rs1057516893
ATP7B
1 1.000 0.160 13 51965025 frameshift variant C/- delins 0.700 1.000 2 2013 2016
dbSNP: rs1057516940
rs1057516940
ATP7B
1 1.000 0.160 13 51964920 frameshift variant -/T delins 0.700 1.000 2 2004 2016
dbSNP: rs1057517024
rs1057517024
ATP7B
1 1.000 0.160 13 51965035 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517141
rs1057517141
ATP7B
1 1.000 0.160 13 51970697 frameshift variant -/AA delins 0.700 0
dbSNP: rs1057517191
rs1057517191
ATP7B
1 1.000 0.160 13 51934912 frameshift variant G/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1057517233
rs1057517233
ATP7B
1 1.000 0.160 13 51937395 splice acceptor variant T/C snv 0.700 1.000 4 1995 2013
dbSNP: rs1057517310
rs1057517310
ATP7B
1 1.000 0.160 13 51949710 missense variant C/A snv 0.800 1.000 6 2007 2017