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: rs1057518074
rs1057518074
KMT2A
1 1.000 0.240 11 118478096 missense variant G/A snv 0.700 1.000 2 2015 2017
dbSNP: rs797045051
rs797045051
KMT2A
1 1.000 0.240 11 118495830 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519403
rs1057519403
KMT2A
2 1.000 0.240 11 118499835 missense variant G/A snv 0.700 0
dbSNP: rs1057519407
rs1057519407
KMT2A
1 1.000 0.240 11 118490250 splice donor variant G/A snv 0.700 0
dbSNP: rs1057519408
rs1057519408
KMT2A
2 1.000 0.240 11 118499340 frameshift variant TTGT/- delins 0.700 0
dbSNP: rs1131691433
rs1131691433
KMT2A
1 1.000 0.240 11 118488648 missense variant A/G snv 0.700 0
dbSNP: rs1131691503
rs1131691503
KMT2A
1 1.000 0.240 11 118478105 missense variant G/A;C snv 0.700 0
dbSNP: rs1131692268
rs1131692268
KMT2A
2 0.925 0.240 11 118504037 frameshift variant A/- delins 0.700 0
dbSNP: rs1135401764
rs1135401764
KMT2A
2 1.000 0.240 11 118476983 splice donor variant G/A snv 0.700 0
dbSNP: rs1555035550
rs1555035550
KMT2A
1 1.000 0.240 11 118471761 frameshift variant -/T ins 0.700 0
dbSNP: rs1555035779
rs1555035779
KMT2A
1 1.000 0.240 11 118472197 frameshift variant A/- del 0.700 0
dbSNP: rs1555036801
rs1555036801
KMT2A
1 1.000 0.240 11 118474055 stop gained A/T snv 0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1555038125
rs1555038125
KMT2A
1 1.000 0.240 11 118478198 missense variant G/A snv 0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
9 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
dbSNP: rs1555045177
rs1555045177
KMT2A
1 1.000 0.240 11 118499919 splice region variant T/A;C snv 0.700 0
dbSNP: rs1555046568
rs1555046568
KMT2A
1 1.000 0.240 11 118503330 stop gained C/T snv 0.700 0
dbSNP: rs1555047266
rs1555047266
KMT2A
1 1.000 0.240 11 118504435 missense variant T/C snv 0.700 0
dbSNP: rs1555049702
rs1555049702
KMT2A
1 1.000 0.240 11 118510119 splice donor variant G/A snv 0.700 0
dbSNP: rs1565286640
rs1565286640
KMT2A
1 1.000 0.240 11 118481820 frameshift variant CA/- del 0.700 0
dbSNP: rs1565304395
rs1565304395
KMT2A
1 1.000 0.240 11 118504159 frameshift variant -/A delins 0.700 0
dbSNP: rs1565310297
rs1565310297
KMT2A
1 1.000 0.240 11 118510077 frameshift variant C/- delins 0.700 0
dbSNP: rs387907275
rs387907275
KMT2A
1 1.000 0.240 11 118503036 stop gained C/T snv 0.700 0
dbSNP: rs398122878
rs398122878
KMT2A
1 1.000 0.240 11 118504691 frameshift variant GTCT/- delins 0.700 0