Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434624
CREBBP
1.000 0.120 16 3850689 stop gained G/A;C snv 4.0E-06 1
rs121434625
CREBBP
0.925 0.120 16 3793533 stop gained G/A snv 1
rs121434626
CREBBP
1.000 0.120 16 3740399 missense variant C/G snv 1
rs1302427305
CREBBP
0.925 0.120 16 3792074 stop gained G/A snv 2
rs1555470631
CREBBP
1.000 0.120 16 3727471 stop lost AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G delins 1
rs1555471077
CREBBP
1.000 0.120 16 3728772 stop gained G/C snv 1
rs1555472938
CREBBP
0.925 0.120 16 3736119 frameshift variant CA/- delins 2
rs1555473122
CREBBP
1.000 0.120 16 3736772 inframe deletion CCT/- delins 1
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 3
rs1555483716
CREBBP
1.000 0.120 16 3778093 frameshift variant G/- del 1
rs1555483834
CREBBP
0.925 0.120 16 3778699 splice donor variant C/A;T snv 2
rs1555910114
EP300
1.000 0.120 22 41157167 splice acceptor variant A/G snv 1
rs1567262537
CREBBP
1.000 0.120 16 3729142 stop gained G/A snv 1
rs1567263114
CREBBP
0.925 0.120 16 3729405 frameshift variant CT/- delins 2
rs1567269316
CREBBP
1.000 0.120 16 3736104 stop gained T/A snv 1
rs1567277287
CREBBP
1.000 0.120 16 3745356 splice acceptor variant T/A snv 1
rs1567287477
CREBBP
1.000 0.120 16 3757906 missense variant G/C snv 1
rs1567309482
CREBBP
1.000 0.120 16 3782694 frameshift variant AG/- delins 1
rs1567316655
CREBBP
1.000 0.120 16 3792030 frameshift variant CA/- delins 1
rs1567318022
CREBBP
1.000 0.120 16 3793539 frameshift variant -/T delins 1
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 6
rs200782888
CREBBP
0.925 0.120 16 3749626 splice donor variant C/G;T snv 2
rs267606752
CREBBP
0.925 0.120 16 3749631 missense variant C/T snv 2
rs28937315
CREBBP
1.000 0.120 16 3757894 missense variant T/C snv 1
rs565779970
EP300
0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05 2