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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs193922111
rs193922111
ATP7B
1 1.000 0.160 13 51974375 frameshift variant A/- del 4.0E-06 0.700 1.000 7 1997 2011
dbSNP: rs1057516643
rs1057516643
ATP7B
1 1.000 0.160 13 51949717 frameshift variant A/- del 0.700 1.000 6 2001 2016
dbSNP: rs780327716
rs780327716
ATP7B
1 1.000 0.160 13 51964959 frameshift variant A/- del 8.0E-06 0.700 1.000 6 1995 2014
dbSNP: rs1555283564
rs1555283564
ATP7B
1 1.000 0.160 13 51937291 frameshift variant T/- del 0.700 1.000 2 2013 2013
dbSNP: rs1555293357
rs1555293357
ATP7B
1 1.000 0.160 13 51965002 frameshift variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs1057516227
rs1057516227
ATP7B
1 1.000 0.160 13 51937354 frameshift variant TG/- del 0.700 0
dbSNP: rs1057516740
rs1057516740
ATP7B
1 1.000 0.160 13 51937579 frameshift variant T/- del 0.700 0
dbSNP: rs1060499593
rs1060499593
ATP7B
1 1.000 0.160 13 51970658 frameshift variant CACT/- del 0.700 0
dbSNP: rs137853287
rs137853287
ATP7B
1 1.000 0.160 13 51958362 frameshift variant G/-;GG delins 1.1E-04 0.700 1.000 31 1995 2016
dbSNP: rs137853281
rs137853281
ATP7B
1 1.000 0.160 13 51942396 frameshift variant G/- delins 0.700 1.000 25 1993 2015
dbSNP: rs558037268
rs558037268
ATP7B
1 1.000 0.160 13 51974695 frameshift variant TT/-;TTT delins 7.0E-06 0.700 1.000 11 1998 2017
dbSNP: rs755709270
rs755709270
ATP7B
1 1.000 0.160 13 51950315 frameshift variant T/- delins 4.0E-06 7.0E-06 0.700 1.000 11 1995 2014
dbSNP: rs781266802
rs781266802
ATP7B
1 1.000 0.160 13 51939096 inframe deletion GAACCA/- delins 3.6E-05 1.4E-05 0.700 1.000 9 1995 2009
dbSNP: rs771603301
rs771603301
ATP7B
1 1.000 0.160 13 51935624 frameshift variant CA/- delins 1.4E-05 0.700 1.000 6 1995 2013
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
1 1.000 0.160 13 52011318 frameshift variant GT/- delins 1.5E-04 0.700 1.000 5 2006 2018
dbSNP: rs1331370011
rs1331370011
ATP7B
1 1.000 0.160 13 51944267 frameshift variant TCT/C;T delins 0.700 1.000 4 1995 2018
dbSNP: rs1555285380
rs1555285380
ATP7B
1 1.000 0.160 13 51941188 frameshift variant T/- delins 0.700 1.000 4 1999 2013
dbSNP: rs753962912
rs753962912
ATP7B
1 1.000 0.160 13 51964995 frameshift variant AT/- delins 1.6E-05 3.5E-05 0.700 1.000 4 1999 2013
dbSNP: rs762031690
rs762031690
ATP7B
1 1.000 0.160 13 51944205 frameshift variant G/- delins 0.700 1.000 4 1995 2016
dbSNP: rs777362050
rs777362050
ATP7B
1 1.000 0.160 13 51950334 frameshift variant T/- delins 1.2E-05 0.700 1.000 4 1999 2006
dbSNP: rs786204570
rs786204570
ATP7B
1 1.000 0.160 13 51974441 frameshift variant -/G delins 4.0E-06 2.1E-05 0.700 1.000 4 2000 2010
dbSNP: rs1057517444
rs1057517444
ATP7B
1 1.000 0.160 13 51970692 frameshift variant TTTG/- delins 0.700 1.000 3 2001 2006
dbSNP: rs1484840087
rs1484840087
ATP7B ; ALG11
1 1.000 0.160 13 52011759 intron variant GCGGTCTCGGCCACC/- delins 7.0E-06 0.700 1.000 3 1999 2016
dbSNP: rs768729972
rs768729972
ATP7B
1 1.000 0.160 13 51958500 frameshift variant -/A delins 0.700 1.000 3 1997 2014