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: rs41292782
rs41292782
ATP7B
1 1.000 0.160 13 51946372 missense variant G/A snv 1.2E-03 1.5E-03 0.800 0
dbSNP: rs1052485948
rs1052485948
ATP7B
1 1.000 0.160 13 51949764 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs1057516227
rs1057516227
ATP7B
1 1.000 0.160 13 51937354 frameshift variant TG/- del 0.700 0
dbSNP: rs1057516228
rs1057516228
ATP7B
1 1.000 0.160 13 51937349 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516305
rs1057516305
ATP7B
1 1.000 0.160 13 51970663 stop gained C/A snv 0.700 0
dbSNP: rs1057516380
rs1057516380
ATP7B
1 1.000 0.160 13 51958509 stop gained G/T snv 0.700 0
dbSNP: rs1057516479
rs1057516479
ATP7B
1 1.000 0.160 13 51941108 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1057516516
rs1057516516
ATP7B
1 1.000 0.160 13 51975117 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057516732
rs1057516732
ATP7B
1 1.000 0.160 13 51957515 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516740
rs1057516740
ATP7B
1 1.000 0.160 13 51937579 frameshift variant T/- del 0.700 0
dbSNP: rs1057517024
rs1057517024
ATP7B
1 1.000 0.160 13 51965035 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517141
rs1057517141
ATP7B
1 1.000 0.160 13 51970697 frameshift variant -/AA delins 0.700 0
dbSNP: rs1057517351
rs1057517351
ATP7B
1 1.000 0.160 13 51975169 splice acceptor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1057517384
rs1057517384
ATP7B
1 1.000 0.160 13 51974830 frameshift variant -/GC delins 0.700 0
dbSNP: rs1060499593
rs1060499593
ATP7B
1 1.000 0.160 13 51970658 frameshift variant CACT/- del 0.700 0
dbSNP: rs1064797072
rs1064797072
ATP7B
1 1.000 0.160 13 51944116 missense variant C/A snv 0.700 0
dbSNP: rs1131691741
rs1131691741
ATP7B
1 1.000 0.160 13 51937305 missense variant T/G snv 7.0E-06 0.700 0
dbSNP: rs1160679283
rs1160679283
ATP7B
1 1.000 0.160 13 51935660 missense variant A/G snv 4.1E-06 0.700 0
dbSNP: rs1173050016
rs1173050016
ATP7B
1 1.000 0.160 13 51964924 missense variant A/C snv 0.700 0
dbSNP: rs1180133690
rs1180133690
ATP7B
1 1.000 0.160 13 51958443 stop gained -/T delins 7.0E-06 0.700 0
dbSNP: rs1230241288
rs1230241288
ATP7B
1 1.000 0.160 13 51949765 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1314712150
rs1314712150
ATP7B
1 1.000 0.160 13 51937577 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1318758433
rs1318758433
ATP7B
1 1.000 0.160 13 51941110 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1319653818
rs1319653818
ATP7B
1 1.000 0.160 13 51958545 splice acceptor variant C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1330620114
rs1330620114
ATP7B
1 1.000 0.160 13 51941178 missense variant C/A snv 0.700 0