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: rs1057516049
rs1057516049
KAT6A
7 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
dbSNP: rs1554679726
rs1554679726
KAT6A
1 1.000 8 41933531 frameshift variant TA/- delins 0.700 0
dbSNP: rs1554680188
rs1554680188
KAT6A
1 1.000 8 41934624 frameshift variant C/- delins 0.700 0
dbSNP: rs1554680245
rs1554680245
KAT6A
1 1.000 8 41934777 frameshift variant T/- delins 0.700 0
dbSNP: rs1564005155
rs1564005155
KAT6A
1 1.000 8 41934182 frameshift variant A/- del 0.700 0
dbSNP: rs1564038389
rs1564038389
KAT6A
1 1.000 8 41980845 splice donor variant C/- delins 0.700 0
dbSNP: rs1564038539
rs1564038539
KAT6A
1 1.000 8 41980897 stop gained G/A snv 0.700 0
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 0
dbSNP: rs786200959
rs786200959
KAT6A
1 1.000 8 41937491 frameshift variant GA/- delins 0.700 0
dbSNP: rs786200960
rs786200960
KAT6A
1 1.000 8 41934835 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs786200961
rs786200961
KAT6A
1 1.000 8 41937538 stop gained G/A snv 0.700 0
dbSNP: rs886042000
rs886042000
KAT6A
1 1.000 8 41934715 stop gained G/A snv 0.700 0