Gene: ATP7B ×
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: 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: 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: rs60986317
rs60986317
ATP7B
1 1.000 0.160 13 51934853 missense variant G/A snv 2.0E-03 2.8E-03 0.700 0
dbSNP: rs72552259
rs72552259
ATP7B
1 1.000 0.160 13 51960274 missense variant C/T snv 1.5E-03; 4.0E-06 1.5E-03 0.800 1.000 20 1995 2015
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: rs181250704
rs181250704
ATP7B
1 1.000 0.160 13 51935019 missense variant G/A snv 1.1E-03 1.5E-03 0.700 1.000 23 1995 2017
dbSNP: rs373762572
rs373762572
ATP7B
1 1.000 0.160 13 51974778 missense variant G/A;C snv 1.1E-03; 8.0E-06 0.700 1.000 20 1995 2015
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 56 1993 2019
dbSNP: rs191312027
rs191312027
ATP7B
1 1.000 0.160 13 51950132 stop gained C/A;T snv 4.0E-06; 6.9E-04 0.800 1.000 12 1997 2019
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: rs186924074
rs186924074
ATP7B
1 1.000 0.160 13 51961861 missense variant A/G snv 4.9E-04 5.8E-04 0.700 1.000 3 2008 2017
dbSNP: rs200911496
rs200911496
ATP7B
1 1.000 0.160 13 51939062 missense variant T/C;G snv 3.2E-04; 4.0E-06 0.800 1.000 20 1995 2015
dbSNP: rs557577836
rs557577836
ATP7B
1 1.000 0.160 13 51974814 missense variant T/A;C snv 6.8E-05; 3.1E-04 0.700 1.000 23 1995 2017
dbSNP: rs201738967
rs201738967
ATP7B
1 1.000 0.160 13 51975098 missense variant T/C snv 2.4E-04 2.4E-04 0.800 1.000 8 2004 2017
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 40 1993 2018
dbSNP: rs199821556
rs199821556
ATP7B
1 1.000 0.160 13 51937493 missense variant C/T snv 2.0E-04 1.5E-04 0.800 1.000 25 1995 2017
dbSNP: rs750019452
rs750019452
ATP7B
1 1.000 0.160 13 51949723 missense variant G/A snv 1.9E-04 3.5E-05 0.800 1.000 17 1998 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 8 1999 2016
dbSNP: rs182659444
rs182659444
ATP7B
1 1.000 0.160 13 51942466 missense variant C/T snv 1.8E-04 4.9E-05 0.700 0
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: rs201061621
rs201061621
ATP7B
1 1.000 0.160 13 51946423 missense variant G/A;C;T snv 1.4E-04; 4.0E-06 0.700 1.000 23 1995 2017
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 64 1995 2020
dbSNP: rs398123136
rs398123136
ATP7B
1 1.000 0.160 13 51958356 synonymous variant G/C snv 1.3E-04 4.9E-05 0.010 1.000 1 2008 2008
dbSNP: rs753330854
rs753330854
ATP7B
1 1.000 0.160 13 51937332 missense variant C/G;T snv 4.0E-06; 1.2E-04 0.700 0
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