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: 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: 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: rs768671894
rs768671894
ATP7B
1 1.000 0.160 13 51950328 missense variant G/A snv 7.0E-06 0.800 1.000 32 1995 2019
dbSNP: rs1555291285
rs1555291285
ATP7B
1 1.000 0.160 13 51958537 missense variant C/G snv 0.810 1.000 25 1995 2019
dbSNP: rs191312027
rs191312027
ATP7B
1 1.000 0.160 13 51950132 stop gained C/A;T snv 4.0E-06; 6.9E-04 0.800 1.000 12 1997 2019
dbSNP: rs732774
rs732774
ATP7B
5 0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56 0.030 1.000 3 2012 2019
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: 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: 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: rs1566598496
rs1566598496
ATP7B
1 1.000 0.160 13 51974412 splice donor variant CTTACAA/- delins 0.700 1.000 2 1999 2018
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: 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: 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
dbSNP: rs756029120
rs756029120
ATP7B
1 1.000 0.160 13 51941120 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 35 1995 2017
dbSNP: rs560952220
rs560952220
ATP7B
1 1.000 0.160 13 51942493 missense variant A/G snv 2.0E-05 7.0E-06 0.810 1.000 34 1995 2017
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: rs746485916
rs746485916
ATP7B
1 1.000 0.160 13 51944231 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.810 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: 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