Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138958687
ATP7A ; PGK1
1.000 0.160 X 78021066 missense variant A/G snv 7.0E-04 4.6E-04 1
rs151340631
PGK1 ; ATP7A
0.925 0.240 X 78011216 stop gained C/G;T snv 2
rs151340632
PGK1 ; ATP7A
0.925 0.240 X 78042694 missense variant A/G snv 2
rs151340633
PGK1 ; ATP7A
1.000 0.160 X 77988722 stop gained C/T snv 5.5E-06 1
rs1557236754
ATP7A ; PGK1
1.000 0.160 X 78029382 missense variant G/A snv 1
rs1557236762
ATP7A ; PGK1
0.925 0.240 X 78029445 splice donor variant G/A snv 2
rs1557237050
PGK1 ; ATP7A
1.000 0.160 X 78031428 missense variant G/A snv 1
rs1557237451
ATP7A ; PGK1
0.882 0.240 X 78033783 stop gained C/A snv 3
rs1557238665
PGK1 ; ATP7A
0.882 0.240 X 78043316 splice acceptor variant G/A snv 3
rs1569549587
PGK1 ; ATP7A
1.000 0.160 X 77988529 frameshift variant CAATCAGA/- del 1
rs1569549699
ATP7A ; PGK1
0.882 0.240 X 77998678 stop gained G/T snv 3
rs1569549753
ATP7A ; PGK1
1.000 0.160 X 78003237 splice donor variant G/A snv 1
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del 3
rs367775730
PGK1 ; ATP7A
1.000 0.160 X 78015786 missense variant G/A snv 2.1E-04 8.5E-05 1
rs72554636
PGK1 ; ATP7A
1.000 0.160 X 77989847 stop gained C/T snv 1
rs72554639
PGK1 ; ATP7A
1.000 0.160 X 78011191 missense variant G/C snv 1
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs72554642
ATP7A ; PGK1
1.000 0.160 X 78011619 missense variant T/G snv 1
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv 1
rs72554645
PGK1 ; ATP7A
1.000 0.160 X 78013089 stop gained C/T snv 1
rs72554646
ATP7A ; PGK1
1.000 0.160 X 78015873 missense variant T/G snv 1
rs72554649
PGK1 ; ATP7A
1.000 0.160 X 78029271 stop gained C/T snv 1
rs72554650
ATP7A ; PGK1
1.000 0.160 X 78029289 stop gained C/T snv 1
rs72554651
PGK1 ; ATP7A
1.000 0.160 X 78029350 missense variant T/C snv 1
rs72554652
PGK1 ; ATP7A
1.000 0.160 X 78029389 missense variant G/A snv 1