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: rs199470477
rs199470477
KAT6B ; DUPD1
2 1.000 0.320 10 75029027 frameshift variant CT/- delins 0.700 1.000 3 2011 2017
dbSNP: rs1564632652
rs1564632652
KAT6B ; DUPD1
1 1.000 0.320 10 75030114 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1564628365
rs1564628365
KAT6B
1 1.000 0.320 10 75025166 frameshift variant A/- del 0.700 0
dbSNP: rs199470469
rs199470469
KAT6B ; DUPD1
1 1.000 0.320 10 75028504 frameshift variant TTCAAGTAACTTGAAA/- delins 0.700 0
dbSNP: rs199470470
rs199470470
KAT6B ; DUPD1
1 1.000 0.320 10 75028589 frameshift variant TCTA/- delins 0.700 0
dbSNP: rs199470472
rs199470472
KAT6B ; DUPD1
1 1.000 0.320 10 75028611 frameshift variant AA/- delins 0.700 0
dbSNP: rs199470473
rs199470473
KAT6B ; DUPD1
1 1.000 0.320 10 75028626 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs199470475
rs199470475
KAT6B ; DUPD1
1 1.000 0.320 10 75028716 stop gained G/T snv 0.700 0
dbSNP: rs199470478
rs199470478
KAT6B ; DUPD1
1 1.000 0.320 10 75029184 frameshift variant GAAAACCAG/AAAAACCAAAA delins 0.700 0
dbSNP: rs199470482
rs199470482
KAT6B ; DUPD1
2 0.925 0.440 10 75030015 frameshift variant -/TGCTGCAGCA delins 0.700 0