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: 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: 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: 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: 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: 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
dbSNP: rs121907998
rs121907998
ATP7B
1 1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04 0.800 1.000 33 1995 2017
dbSNP: rs587783309
rs587783309
ATP7B
1 1.000 0.160 13 51944164 missense variant G/A snv 7.0E-06 0.800 1.000 33 1995 2017
dbSNP: rs1286080173
rs1286080173
ATP7B
2 0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.800 1.000 32 1995 2017
dbSNP: rs1555286628
rs1555286628
ATP7B
1 1.000 0.160 13 51944266 missense variant G/A snv 0.800 1.000 32 1995 2017
dbSNP: rs761632029
rs761632029
ATP7B
1 1.000 0.160 13 51942503 missense variant C/T snv 8.0E-06 7.0E-06 0.810 1.000 32 1995 2017
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: 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: rs1555291147
rs1555291147
ATP7B
1 1.000 0.160 13 51958372 missense variant T/C snv 0.800 1.000 31 1995 2017
dbSNP: rs374094065
rs374094065
ATP7B
1 1.000 0.160 13 51944161 missense variant T/G snv 1.5E-04 9.1E-05 0.800 1.000 31 1995 2017
dbSNP: rs72552285
rs72552285
ATP7B
1 1.000 0.160 13 51961859 missense variant C/A;G;T snv 8.0E-06; 1.2E-05; 4.0E-06 0.800 1.000 30 1994 2017