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: rs72554643
rs72554643
ATP7A ; PGK1
1 1.000 0.160 X 78011655 stop gained T/A snv 0.010 1.000 1 2000 2000
dbSNP: rs367775730
rs367775730
ATP7A ; PGK1
1 1.000 0.160 X 78015786 missense variant G/A snv 2.1E-04 8.5E-05 0.700 1.000 11 1994 2012
dbSNP: rs72554642
rs72554642
ATP7A ; PGK1
1 1.000 0.160 X 78011619 missense variant T/G snv 0.700 1.000 10 1994 2012
dbSNP: rs72554651
rs72554651
ATP7A ; PGK1
1 1.000 0.160 X 78029350 missense variant T/C snv 0.700 1.000 10 1994 2012
dbSNP: rs72554654
rs72554654
ATP7A ; PGK1
1 1.000 0.160 X 78033663 missense variant G/A snv 0.700 1.000 10 1994 2012
dbSNP: rs72554655
rs72554655
ATP7A ; PGK1
1 1.000 0.160 X 78040695 missense variant G/A snv 0.700 1.000 10 1994 2012
dbSNP: rs72554657
rs72554657
ATP7A ; PGK1
1 1.000 0.160 X 78042687 missense variant G/A snv 0.700 1.000 10 1994 2012
dbSNP: rs794729231
rs794729231
ATP7A ; PGK1
1 1.000 0.160 X 78011448 splice acceptor variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs138958687
rs138958687
ATP7A ; PGK1
1 1.000 0.160 X 78021066 missense variant A/G snv 7.0E-04 4.6E-04 0.700 0
dbSNP: rs151340631
rs151340631
ATP7A ; PGK1
2 0.925 0.240 X 78011216 stop gained C/G;T snv 0.700 0
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
2 0.925 0.240 X 78042694 missense variant A/G snv 0.700 0
dbSNP: rs1557236754
rs1557236754
ATP7A ; PGK1
1 1.000 0.160 X 78029382 missense variant G/A snv 0.700 0
dbSNP: rs1557236762
rs1557236762
ATP7A ; PGK1
2 0.925 0.240 X 78029445 splice donor variant G/A snv 0.700 0
dbSNP: rs1557237050
rs1557237050
ATP7A ; PGK1
1 1.000 0.160 X 78031428 missense variant G/A snv 0.700 0
dbSNP: rs1557237451
rs1557237451
ATP7A ; PGK1
3 0.882 0.240 X 78033783 stop gained C/A snv 0.700 0
dbSNP: rs1557238665
rs1557238665
ATP7A ; PGK1
3 0.882 0.240 X 78043316 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1569549587
rs1569549587
ATP7A ; PGK1
1 1.000 0.160 X 77988529 frameshift variant CAATCAGA/- del 0.700 0
dbSNP: rs1569549699
rs1569549699
ATP7A ; PGK1
3 0.882 0.240 X 77998678 stop gained G/T snv 0.700 0
dbSNP: rs1569549753
rs1569549753
ATP7A ; PGK1
1 1.000 0.160 X 78003237 splice donor variant G/A snv 0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
3 0.882 0.240 X 78014722 frameshift variant G/- del 0.700 0
dbSNP: rs72554636
rs72554636
ATP7A ; PGK1
1 1.000 0.160 X 77989847 stop gained C/T snv 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs72554645
rs72554645
ATP7A ; PGK1
1 1.000 0.160 X 78013089 stop gained C/T snv 0.700 0
dbSNP: rs72554649
rs72554649
ATP7A ; PGK1
1 1.000 0.160 X 78029271 stop gained C/T snv 0.700 0
dbSNP: rs72554650
rs72554650
ATP7A ; PGK1
1 1.000 0.160 X 78029289 stop gained C/T snv 0.700 0