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: rs886037664
rs886037664
EP300
1 1.000 0.120 22 41117194 frameshift variant CTCT/- delins 0.700 1.000 2 2014 2016
dbSNP: rs1057519375
rs1057519375
EP300 ; EP300-AS1
1 1.000 0.120 22 41178931 frameshift variant CA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1114167305
rs1114167305
EP300
1 1.000 0.120 22 41162784 splice region variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167306
rs1114167306
EP300
1 1.000 0.120 22 41172557 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
2 0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs139310551
rs139310551
EP300 ; EP300-AS1
1 1.000 0.120 22 41176400 stop gained C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1555912040
rs1555912040
EP300 ; EP300-AS1
1 1.000 0.120 22 41176420 frameshift variant -/ATGT delins 0.700 1.000 1 2015 2015
dbSNP: rs1569118537
rs1569118537
EP300
2 0.925 0.200 22 41172631 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs565779970
rs565779970
EP300
2 0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05 0.700 1.000 1 2005 2005
dbSNP: rs587778256
rs587778256
EP300 ; EP300-AS1
1 1.000 0.120 22 41178337 inframe deletion CCAGTTCCAGCA/- delins 1.6E-03 1.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs886041830
rs886041830
EP300
1 1.000 0.120 22 41155015 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057517732
rs1057517732
EP300 ; EP300-AS1
1 1.000 0.120 22 41176250 missense variant T/G snv 0.700 0
dbSNP: rs1057521737
rs1057521737
EP300
11 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
dbSNP: rs137853039
rs137853039
EP300
1 1.000 0.120 22 41141111 stop gained C/T snv 0.700 0
dbSNP: rs1555902247
rs1555902247
EP300
1 1.000 0.120 22 41093071 frameshift variant TC/- delins 0.700 0
dbSNP: rs1555909666
rs1555909666
EP300
2 0.925 0.200 22 41151998 stop gained G/T snv 0.700 0
dbSNP: rs1555909697
rs1555909697
EP300
1 1.000 0.120 22 41152277 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1555910482
rs1555910482
EP300
1 1.000 0.120 22 41162733 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs1555910602
rs1555910602
EP300
1 1.000 0.120 22 41164055 inframe deletion TTG/- delins 0.700 0
dbSNP: rs1555910821
rs1555910821
EP300
1 1.000 0.120 22 41166649 missense variant A/G snv 0.700 0
dbSNP: rs1555911316
rs1555911316
EP300
1 1.000 0.120 22 41170490 inframe deletion ACCCAA/- del 0.700 0
dbSNP: rs1555911334
rs1555911334
EP300
1 1.000 0.120 22 41170576 splice region variant G/T snv 0.700 0
dbSNP: rs1555912238
rs1555912238
EP300 ; EP300-AS1
1 1.000 0.120 22 41177907 stop gained C/T snv 0.700 0
dbSNP: rs1569090642
rs1569090642
EP300
1 1.000 0.120 22 41117728 frameshift variant G/- delins 0.700 0
dbSNP: rs1569108381
rs1569108381
EP300
1 1.000 0.120 22 41151890 frameshift variant CACAGAAG/- delins 0.700 0