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: rs911589273
rs911589273
ATP7B
1 1.000 0.160 13 51974250 stop gained T/A snv 0.700 0
dbSNP: rs886042519
rs886042519
ATP7B
1 1.000 0.160 13 51939086 frameshift variant CCC/-;CC delins 0.700 0
dbSNP: rs879255499
rs879255499
ATP7B ; ALG11
1 1.000 0.160 13 52011762 intron variant GTCTCGGCCACCTCG/- delins 0.700 1.000 1 1999 1999
dbSNP: rs867107727
rs867107727
ATP7B
1 1.000 0.160 13 51941147 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs797045402
rs797045402
ATP7B
1 1.000 0.160 13 51964969 missense variant C/T snv 4.0E-06 7.0E-06 0.810 1.000 23 1995 2017
dbSNP: rs797045083
rs797045083
ATP7B
1 1.000 0.160 13 51974837 frameshift variant C/- delins 0.700 0
dbSNP: rs786204764
rs786204764
ATP7B
1 1.000 0.160 13 51960234 frameshift variant G/- delins 0.700 1.000 2 2004 2007
dbSNP: rs786204718
rs786204718
ATP7B
1 1.000 0.160 13 51950069 missense variant C/T snv 1.6E-05 2.8E-05 0.800 1.000 28 1995 2017
dbSNP: rs786204658
rs786204658
ATP7B
1 1.000 0.160 13 51939152 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs786204643
rs786204643
ATP7B
1 1.000 0.160 13 51974966 missense variant C/A snv 7.0E-06 0.810 1.000 29 1995 2017
dbSNP: rs786204584
rs786204584
ATP7B
1 1.000 0.160 13 51942556 splice acceptor variant T/C snv 0.700 1.000 4 2011 2014
dbSNP: rs786204578
rs786204578
ATP7B
1 1.000 0.160 13 51935666 stop gained G/A snv 4.1E-06 0.700 1.000 7 2005 2013
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: 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: 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: 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: rs780811477
rs780811477
ATP7B
1 1.000 0.160 13 51935599 missense variant A/C;G snv 0.700 1.000 23 1995 2017
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: rs779904655
rs779904655
ATP7B
1 1.000 0.160 13 51960254 frameshift variant CATATAG/- delins 2.4E-05 1.4E-05 0.700 1.000 3 1993 1999
dbSNP: rs779494870
rs779494870
ATP7B
1 1.000 0.160 13 51935695 missense variant C/T snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs779323689
rs779323689
ATP7B
1 1.000 0.160 13 51949699 missense variant C/T snv 2.0E-05 2.1E-05 0.800 1.000 18 1998 2017
dbSNP: rs778914828
rs778914828
ATP7B
1 1.000 0.160 13 51937543 missense variant T/C snv 4.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs778825095
rs778825095
ATP7B
1 1.000 0.160 13 51942526 missense variant C/T snv 4.0E-06 0.700 1.000 20 1995 2015
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