Gene: ATP7B ×
Source: BEFREE ×
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: 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 21 1993 2019
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 17 1995 2020
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 2 1993 2018
dbSNP: rs121908000
rs121908000
ATP7B
1 1.000 0.160 13 51958543 missense variant A/G snv 4.9E-05 0.820 1.000 2 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 2 1995 2017
dbSNP: rs201497300
rs201497300
ATP7B
1 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.820 1.000 2 1989 2016
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 1 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 1 1995 2017
dbSNP: rs1555291285
rs1555291285
ATP7B
1 1.000 0.160 13 51958537 missense variant C/G snv 0.810 1.000 1 1995 2019
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 1 1995 2017
dbSNP: rs60431989
rs60431989
ATP7B
1 1.000 0.160 13 51941194 missense variant A/G snv 4.0E-05 3.5E-05 0.810 1.000 1 1999 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 1 1995 2017
dbSNP: rs752850609
rs752850609
ATP7B
1 1.000 0.160 13 51964894 missense variant C/T snv 4.8E-05 1.4E-05 0.810 1.000 1 1999 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 1 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 1 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 1 1995 2017
dbSNP: rs797045402
rs797045402
ATP7B
1 1.000 0.160 13 51964969 missense variant C/T snv 4.0E-06 7.0E-06 0.810 1.000 1 1995 2017
dbSNP: rs572147914
rs572147914
ATP7B
1 1.000 0.160 13 51974407 stop gained G/A;T snv 1.9E-04; 9.7E-05 0.720 1.000 2 1999 2016
dbSNP: rs541408630
rs541408630
ATP7B
1 1.000 0.160 13 51957600 missense variant G/A snv 8.0E-06 2.8E-05 0.710 1.000 1 1995 2015
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: rs1173623580
rs1173623580
ATP7B
1 1.000 0.160 13 51944143 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs772464343
rs772464343
ATP7B
1 1.000 0.160 13 51942458 missense variant C/T snv 8.0E-06 0.020 1.000 2 2003 2014
dbSNP: rs1061472
rs1061472
ATP7B
2 0.925 0.200 13 51950352 missense variant T/C;G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs1260868219
rs1260868219
ATP7B
1 1.000 0.160 13 51968520 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1277243795
rs1277243795
ATP7B
1 1.000 0.160 13 51937652 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015