Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs1557237451
ATP7A ; PGK1
0.882 0.240 X 78033783 stop gained C/A snv 3
rs1569549699
ATP7A ; PGK1
0.882 0.240 X 77998678 stop gained G/T snv 3
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del 3
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv 3
rs797045397
ATP7A ; PGK1
0.882 0.240 X 77988541 frameshift variant AG/- delins 3
rs1557238665
PGK1 ; ATP7A
0.882 0.240 X 78043316 splice acceptor variant G/A snv 3
rs1557236762
ATP7A ; PGK1
0.925 0.240 X 78029445 splice donor variant G/A snv 2
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
rs138958687
ATP7A ; PGK1
1.000 0.160 X 78021066 missense variant A/G snv 7.0E-04 4.6E-04 1
rs1557236754
ATP7A ; PGK1
1.000 0.160 X 78029382 missense variant G/A snv 1
rs1569549753
ATP7A ; PGK1
1.000 0.160 X 78003237 splice donor variant G/A snv 1
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
rs72554646
ATP7A ; PGK1
1.000 0.160 X 78015873 missense variant T/G snv 1
rs72554650
ATP7A ; PGK1
1.000 0.160 X 78029289 stop gained C/T snv 1
rs72554654
ATP7A ; PGK1
1.000 0.160 X 78033663 missense variant G/A snv 1
rs72554657
ATP7A ; PGK1
1.000 0.160 X 78042687 missense variant G/A snv 1
rs797045325
ATP7A ; PGK1
1.000 0.160 X 77989628 stop gained G/T snv 1
rs797045329
ATP7A ; PGK1
1.000 0.160 X 77998496 frameshift variant T/- del 1
rs797045331
ATP7A ; PGK1
1.000 0.160 X 78003072 splice acceptor variant G/A snv 1
rs797045336
ATP7A ; PGK1
1.000 0.160 X 78009176 stop gained C/G snv 1
rs797045338
ATP7A ; PGK1
1.000 0.160 X 78011175 splice acceptor variant G/C snv 1
rs797045339
ATP7A ; PGK1
1.000 0.160 X 78011180 stop gained T/G snv 1