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: 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: rs1555286628
rs1555286628
ATP7B
1 1.000 0.160 13 51944266 missense variant G/A snv 0.800 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: rs1555283916
rs1555283916
ATP7B
1 1.000 0.160 13 51937579 missense variant T/G snv 0.800 1.000 29 1995 2017
dbSNP: rs786204643
rs786204643
ATP7B
1 1.000 0.160 13 51974966 missense variant C/A snv 7.0E-06 0.810 1.000 29 1995 2017
dbSNP: rs1057520235
rs1057520235
ATP7B
1 1.000 0.160 13 51950277 missense variant A/G snv 0.800 1.000 28 1995 2017
dbSNP: rs540935874
rs540935874
ATP7B
1 1.000 0.160 13 51949775 missense variant C/G;T snv 0.800 1.000 28 1995 2017
dbSNP: rs121908000
rs121908000
ATP7B
1 1.000 0.160 13 51958543 missense variant A/G snv 4.9E-05 0.820 1.000 27 1995 2017
dbSNP: rs121908001
rs121908001
ATP7B
1 1.000 0.160 13 51960198 missense variant C/T snv 0.800 1.000 27 1995 2017
dbSNP: rs1412025509
rs1412025509
ATP7B
1 1.000 0.160 13 51944224 missense variant A/G snv 7.0E-06 0.810 1.000 26 1995 2017
dbSNP: rs1555285891
rs1555285891
ATP7B
1 1.000 0.160 13 51942514 missense variant T/C;G snv 0.800 1.000 26 1995 2017
dbSNP: rs137853281
rs137853281
ATP7B
1 1.000 0.160 13 51942396 frameshift variant G/- delins 0.700 1.000 25 1993 2015
dbSNP: rs1555291285
rs1555291285
ATP7B
1 1.000 0.160 13 51958537 missense variant C/G snv 0.810 1.000 25 1995 2019
dbSNP: rs1555285311
rs1555285311
ATP7B
1 1.000 0.160 13 51941131 missense variant A/G snv 0.800 1.000 24 1995 2017
dbSNP: rs751798708
rs751798708
ATP7B
1 1.000 0.160 13 51958331 missense variant A/C snv 7.0E-06 0.800 1.000 24 1995 2017
dbSNP: rs1212479289
rs1212479289
ATP7B
1 1.000 0.160 13 51960191 missense variant G/C;T snv 0.700 1.000 23 1995 2017
dbSNP: rs137853279
rs137853279
ATP7B
1 1.000 0.160 13 51941111 stop gained C/A;T snv 0.700 1.000 23 1995 2017
dbSNP: rs1416453532
rs1416453532
ATP7B
1 1.000 0.160 13 51944281 missense variant A/G snv 0.700 1.000 23 1995 2017
dbSNP: rs1487547257
rs1487547257
ATP7B
1 1.000 0.160 13 51946399 missense variant G/A snv 7.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs1555282678
rs1555282678
ATP7B
1 1.000 0.160 13 51935611 missense variant G/A snv 0.700 1.000 23 1995 2017
dbSNP: rs1555282751
rs1555282751
ATP7B
1 1.000 0.160 13 51935654 missense variant C/T snv 0.700 1.000 23 1995 2017
dbSNP: rs1555283946
rs1555283946
ATP7B
1 1.000 0.160 13 51937612 missense variant T/C snv 0.700 1.000 23 1995 2017
dbSNP: rs1555284582
rs1555284582
ATP7B
1 1.000 0.160 13 51939112 missense variant C/A snv 0.700 1.000 23 1995 2017