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: rs1340942427
rs1340942427
ATP7B
1 1.000 0.160 13 51937495 missense variant G/T snv 0.700 0
dbSNP: rs1360279134
rs1360279134
ATP7B
1 1.000 0.160 13 51970491 splice donor variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1362773192
rs1362773192
ATP7B
1 1.000 0.160 13 51958432 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1555282316
rs1555282316
ATP7B
1 1.000 0.160 13 51935003 frameshift variant -/A delins 0.700 0
dbSNP: rs1555282347
rs1555282347
ATP7B
1 1.000 0.160 13 51935031 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555282816
rs1555282816
ATP7B
1 1.000 0.160 13 51935697 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555283900
rs1555283900
ATP7B
1 1.000 0.160 13 51937570 frameshift variant T/- delins 0.700 0
dbSNP: rs1555287300
rs1555287300
ATP7B
1 1.000 0.160 13 51946307 frameshift variant -/G delins 0.700 0
dbSNP: rs1555288385
rs1555288385
ATP7B
1 1.000 0.160 13 51949695 frameshift variant AAACCGA/- delins 0.700 0
dbSNP: rs1555288479
rs1555288479
ATP7B
1 1.000 0.160 13 51949784 stop gained G/A snv 0.700 0
dbSNP: rs1555288808
rs1555288808
ATP7B
1 1.000 0.160 13 51950368 frameshift variant GC/A delins 0.700 0
dbSNP: rs1555290800
rs1555290800
ATP7B
1 1.000 0.160 13 51957514 splice donor variant A/C snv 0.700 0
dbSNP: rs1555291195
rs1555291195
ATP7B
1 1.000 0.160 13 51958432 frameshift variant GA/- delins 0.700 0
dbSNP: rs1555291207
rs1555291207
ATP7B
1 1.000 0.160 13 51958448 frameshift variant -/A delins 0.700 0
dbSNP: rs1555291784
rs1555291784
ATP7B
1 1.000 0.160 13 51960169 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs1555291870
rs1555291870
ATP7B
1 1.000 0.160 13 51960256 frameshift variant -/TA delins 0.700 0
dbSNP: rs1555294199
rs1555294199
ATP7B
1 1.000 0.160 13 51968428 splice donor variant CCCACAGTACTTACTGTCAGCTCA/- delins 0.700 0
dbSNP: rs1555295017
rs1555295017
ATP7B
1 1.000 0.160 13 51970642 frameshift variant -/C delins 0.700 0
dbSNP: rs1555296015
rs1555296015
ATP7B
1 1.000 0.160 13 51973997 frameshift variant ATT/TATA delins 0.700 0
dbSNP: rs1555296356
rs1555296356
ATP7B
1 1.000 0.160 13 51974379 stop gained G/A snv 0.700 0
dbSNP: rs1555296414
rs1555296414
ATP7B
1 1.000 0.160 13 51974481 frameshift variant -/A delins 0.700 0
dbSNP: rs1566468784
rs1566468784
ATP7B
1 1.000 0.160 13 51942496 frameshift variant -/TGGCACTGCCTGGC delins 0.700 0
dbSNP: rs1566468816
rs1566468816
ATP7B
1 1.000 0.160 13 51942498 frameshift variant ACA/TGGCACTGCCTGGCACT delins 0.700 0
dbSNP: rs1566532164
rs1566532164
ATP7B
1 1.000 0.160 13 51958315 missense variant G/A snv 0.700 0
dbSNP: rs1566560096
rs1566560096
ATP7B
1 1.000 0.160 13 51965022 splice acceptor variant TCCCTGTGATCTGCAACACAGGATGGCAAGAATCCCA/- delins 0.700 0