Gene: ATP7B ×
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: rs587783318
rs587783318
ATP7B
1 1.000 0.160 13 51935678 missense variant C/T snv 1.2E-04 4.2E-05 0.800 1.000 23 1995 2017
dbSNP: rs751202110
rs751202110
ATP7B
1 1.000 0.160 13 51958521 stop gained G/A;C;T snv 1.1E-04; 4.0E-06 0.700 1.000 3 2007 2015
dbSNP: rs193922103
rs193922103
ATP7B
1 1.000 0.160 13 51958361 missense variant T/C snv 6.8E-05; 1.1E-04 1.5E-04 0.800 1.000 14 1995 2017
dbSNP: rs368589213
rs368589213
ATP7B
1 1.000 0.160 13 51950367 missense variant C/A;G;T snv 4.0E-06; 1.0E-04 0.700 1.000 23 1995 2017
dbSNP: rs187046823
rs187046823
ATP7B
1 1.000 0.160 13 51968530 missense variant C/T snv 9.2E-05 1.4E-04 0.700 1.000 3 2008 2017
dbSNP: rs761147984
rs761147984
ATP7B
1 1.000 0.160 13 51944246 missense variant C/T snv 8.8E-05 2.8E-05 0.700 1.000 23 1995 2017
dbSNP: rs587783299
rs587783299
ATP7B
1 1.000 0.160 13 51961906 missense variant C/G snv 8.8E-05 6.3E-05 0.800 1.000 28 1995 2016
dbSNP: rs72552255
rs72552255
ATP7B
1 1.000 0.160 13 51946414 missense variant G/A snv 8.4E-05 1.2E-04 0.800 1.000 34 1995 2017
dbSNP: rs776280797
rs776280797
ATP7B
1 1.000 0.160 13 51939104 missense variant C/T snv 8.4E-05 5.6E-05 0.810 1.000 34 1995 2017
dbSNP: rs193922109
rs193922109
ATP7B
1 1.000 0.160 13 51937342 stop gained G/A snv 7.6E-05 8.4E-05 0.700 1.000 12 1995 2013
dbSNP: rs777879359
rs777879359
ATP7B
1 1.000 0.160 13 51941135 missense variant C/A;T snv 2.0E-05; 7.6E-05 0.700 1.000 23 1995 2017
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: 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: 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: rs200728096
rs200728096
ATP7B
1 1.000 0.160 13 51961868 missense variant G/A snv 5.6E-05 1.0E-04 0.700 1.000 23 1995 2017
dbSNP: rs755554442
rs755554442
ATP7B
1 1.000 0.160 13 51941186 missense variant G/A;C snv 5.6E-05 3.5E-05 0.800 1.000 28 1995 2017
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: rs774102085
rs774102085
ATP7B
1 1.000 0.160 13 51974075 missense variant G/C snv 5.2E-05 5.6E-05 0.700 1.000 3 2008 2017
dbSNP: rs764131178
rs764131178
ATP7B
1 1.000 0.160 13 51944170 missense variant C/T snv 4.8E-05 0.800 1.000 27 1995 2017
dbSNP: rs752850609
rs752850609
ATP7B
1 1.000 0.160 13 51964894 missense variant C/T snv 4.8E-05 1.4E-05 0.810 1.000 17 1999 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: rs774028495
rs774028495
ATP7B
1 1.000 0.160 13 51946439 missense variant G/A snv 4.4E-05 7.0E-06 0.800 1.000 6 2007 2017
dbSNP: rs60431989
rs60431989
ATP7B
1 1.000 0.160 13 51941194 missense variant A/G snv 4.0E-05 3.5E-05 0.810 1.000 16 1999 2017
dbSNP: rs749085322
rs749085322
ATP7B
2 0.925 0.160 13 51941132 missense variant T/C snv 4.0E-05 2.1E-05 0.800 1.000 3 2008 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