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: rs151340632
rs151340632
ATP7A ; PGK1
2 0.925 0.240 X 78042694 missense variant A/G snv 0.810 1.000 5 1997 2012
dbSNP: rs151340631
rs151340631
ATP7A ; PGK1
2 0.925 0.240 X 78011216 stop gained C/G;T snv 0.800 1.000 5 1997 2012
dbSNP: rs1557236762
rs1557236762
ATP7A ; PGK1
2 0.925 0.240 X 78029445 splice donor 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: rs1569549699
rs1569549699
ATP7A ; PGK1
3 0.882 0.240 X 77998678 stop gained G/T snv 0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
3 0.882 0.240 X 78014722 frameshift variant G/- del 0.700 0
dbSNP: rs1569550376
rs1569550376
ATP7A ; PGK1
1 1.000 0.160 X 78046417 frameshift variant G/- delins 0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
3 0.882 0.240 X 78003168 stop gained C/T snv 0.700 0
dbSNP: rs797045397
rs797045397
ATP7A ; PGK1
3 0.882 0.240 X 77988541 frameshift variant AG/- delins 0.700 0