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: rs104894917
rs104894917
PHF6
1 1.000 0.200 X 134413937 missense variant A/G snv 0.800 1.000 3 2002 2013
dbSNP: rs104894918
rs104894918
PHF6
1 1.000 0.200 X 134413923 missense variant A/G snv 0.800 1.000 3 2002 2013
dbSNP: rs104894919
rs104894919
PHF6
1 1.000 0.200 X 134415055 missense variant A/G snv 0.800 1.000 3 2002 2013
dbSNP: rs587777489
rs587777489
PHF6
1 1.000 0.200 X 134417248 missense variant G/T snv 0.800 1.000 3 2002 2013
dbSNP: rs132630298
rs132630298
PHF6
2 1.000 0.200 X 134393556 missense variant G/T snv 0.800 0
dbSNP: rs132630299
rs132630299
PHF6
1 1.000 0.200 X 134377751 missense variant G/A snv 0.800 0
dbSNP: rs132630301
rs132630301
PHF6
1 1.000 0.200 X 134377639 stop gained A/T snv 0.710 1.000 1 2003 2003
dbSNP: rs132630300
rs132630300
PHF6
1 1.000 0.200 X 134377619 start lost T/C snv 0.700 1.000 2 2002 2006
dbSNP: rs1569334260
rs1569334260
PHF6
1 1.000 0.200 X 134377682 stop gained C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1114167289
rs1114167289
PHF6
1 1.000 0.200 X 134393515 stop gained C/A snv 0.700 0
dbSNP: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs1556013203
rs1556013203
PHF6
1 1.000 0.200 X 134377644 frameshift variant -/GG delins 0.700 0
dbSNP: rs1556018932
rs1556018932
PHF6
1 1.000 0.200 X 134413910 stop gained C/T snv 0.700 0
dbSNP: rs1556019105
rs1556019105
PHF6
1 1.000 0.200 X 134415043 inframe deletion ACA/- delins 0.700 0
dbSNP: rs864309532
rs864309532
PHF6
7 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0