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: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 2006 2018
dbSNP: rs751287778
rs751287778
ATP7B
1 1.000 0.160 13 51961831 splice region variant A/G snv 8.0E-06; 4.0E-06 7.0E-06 0.700 1.000 2 2012 2012
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1566580253
rs1566580253
ATP7B
1 1.000 0.160 13 51970560 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs1160679283
rs1160679283
ATP7B
1 1.000 0.160 13 51935660 missense variant A/G snv 4.1E-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: rs193922104
rs193922104
ATP7B
1 1.000 0.160 13 51946391 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs749171049
rs749171049
ATP7B
1 1.000 0.160 13 51935614 missense variant A/G snv 8.1E-06 0.700 0
dbSNP: rs765667658
rs765667658
ATP7B
1 1.000 0.160 13 51958505 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs773385516
rs773385516
ATP7B
1 1.000 0.160 13 51968583 stop gained A/G;T snv 8.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs775541743
rs775541743
ATP7B
2 0.925 0.160 13 51942481 missense variant A/T snv 4.0E-06 0.800 1.000 8 1996 2017
dbSNP: rs753250853
rs753250853
ATP7B
1 1.000 0.160 13 51942535 stop gained A/T snv 8.0E-06 7.0E-06 0.700 1.000 5 2002 2013
dbSNP: rs1474837260
rs1474837260
ATP7B
1 1.000 0.160 13 51960269 stop gained A/T snv 7.0E-06 0.700 1.000 2 2010 2015
dbSNP: rs759749626
rs759749626
ATP7B
1 1.000 0.160 13 51973933 splice donor variant A/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2000 2000
dbSNP: rs1555288385
rs1555288385
ATP7B
1 1.000 0.160 13 51949695 frameshift variant AAACCGA/- delins 0.700 0
dbSNP: rs1566468816
rs1566468816
ATP7B
1 1.000 0.160 13 51942498 frameshift variant ACA/TGGCACTGCCTGGCACT delins 0.700 0
dbSNP: rs1555291784
rs1555291784
ATP7B
1 1.000 0.160 13 51960169 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs753962912
rs753962912
ATP7B
1 1.000 0.160 13 51964995 frameshift variant AT/- delins 1.6E-05 3.5E-05 0.700 1.000 4 1999 2013
dbSNP: rs1555296015
rs1555296015
ATP7B
1 1.000 0.160 13 51973997 frameshift variant ATT/TATA delins 0.700 0
dbSNP: rs1057516893
rs1057516893
ATP7B
1 1.000 0.160 13 51965025 frameshift variant C/- delins 0.700 1.000 2 2013 2016
dbSNP: rs1057516228
rs1057516228
ATP7B
1 1.000 0.160 13 51937349 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516732
rs1057516732
ATP7B
1 1.000 0.160 13 51957515 splice donor variant C/- delins 0.700 0
dbSNP: rs797045083
rs797045083
ATP7B
1 1.000 0.160 13 51974837 frameshift variant C/- delins 0.700 0
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