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: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs199470482
rs199470482
KAT6B ; DUPD1
2 0.925 0.440 10 75030015 frameshift variant -/TGCTGCAGCA delins 0.700 1.000 1 2011 2011
dbSNP: rs1554843829
rs1554843829
KAT6B ; SNORD172
1 1.000 0.360 10 75022074 frameshift variant A/- delins 0.700 0
dbSNP: rs1554845880
rs1554845880
KAT6B ; DUPD1
1 1.000 0.360 10 75029376 frameshift variant -/GA delins 0.700 0
dbSNP: rs1554845902
rs1554845902
KAT6B ; DUPD1
1 1.000 0.360 10 75029406 frameshift variant A/- delins 0.700 0
dbSNP: rs199470468
rs199470468
KAT6B ; SNORD172
1 1.000 0.360 10 75021280 frameshift variant A/- delins 0.700 0
dbSNP: rs199470476
rs199470476
KAT6B ; DUPD1
1 1.000 0.360 10 75028893 stop gained G/T snv 0.700 0
dbSNP: rs199470479
rs199470479
KAT6B ; DUPD1
1 1.000 0.360 10 75029228 frameshift variant -/T delins 0.700 0
dbSNP: rs199470483
rs199470483
KAT6B ; DUPD1
1 1.000 0.360 10 75030192 frameshift variant -/CAAC delins 0.700 0
dbSNP: rs199470484
rs199470484
KAT6B ; DUPD1
1 1.000 0.360 10 75030213 stop gained C/T snv 0.700 0
dbSNP: rs387907364
rs387907364
KAT6B ; DUPD1
1 1.000 0.360 10 75029888 frameshift variant TACTATGG/CACA delins 0.700 0
dbSNP: rs751215527
rs751215527
KAT6B ; SNORD172
1 1.000 0.360 10 75022115 stop gained G/C;T snv 1.6E-05 0.700 0
dbSNP: rs863224883
rs863224883
KAT6B ; DUPD1
1 1.000 0.360 10 75028786 frameshift variant AA/- del 0.700 0