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: rs28937315
rs28937315
CREBBP
1 1.000 0.120 16 3757894 missense variant T/C snv 0.800 1.000 7 2001 2015
dbSNP: rs1057520191
rs1057520191
CREBBP
1 1.000 0.120 16 3736690 missense variant A/G snv 0.700 1.000 7 2001 2015
dbSNP: rs1555473499
rs1555473499
CREBBP
4 0.925 0.120 16 3738605 missense variant A/G snv 0.700 1.000 7 2001 2015
dbSNP: rs746728741
rs746728741
CREBBP
1 1.000 0.120 16 3773849 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 7 2001 2015
dbSNP: rs121434624
rs121434624
CREBBP
1 1.000 0.120 16 3850689 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121434625
rs121434625
CREBBP
2 0.925 0.120 16 3793533 stop gained G/A snv 0.700 0
dbSNP: rs121434626
rs121434626
CREBBP
1 1.000 0.120 16 3740399 missense variant C/G snv 0.700 0
dbSNP: rs1302427305
rs1302427305
CREBBP
2 0.925 0.120 16 3792074 stop gained G/A snv 0.700 0
dbSNP: rs143247685
rs143247685
CREBBP
1 1.000 0.120 16 3770722 missense variant T/A;C snv 2.2E-04; 2.4E-03 0.700 0
dbSNP: rs1555470631
rs1555470631
CREBBP
1 1.000 0.120 16 3727471 stop lost AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G delins 0.700 0
dbSNP: rs1555471077
rs1555471077
CREBBP
1 1.000 0.120 16 3728772 stop gained G/C snv 0.700 0
dbSNP: rs1555472938
rs1555472938
CREBBP
2 0.925 0.120 16 3736119 frameshift variant CA/- delins 0.700 0
dbSNP: rs1555473122
rs1555473122
CREBBP
1 1.000 0.120 16 3736772 inframe deletion CCT/- delins 0.700 0
dbSNP: rs1555483716
rs1555483716
CREBBP
1 1.000 0.120 16 3778093 frameshift variant G/- del 0.700 0
dbSNP: rs1555483834
rs1555483834
CREBBP
2 0.925 0.120 16 3778699 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1555910114
rs1555910114
EP300
1 1.000 0.120 22 41157167 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1567262537
rs1567262537
CREBBP
1 1.000 0.120 16 3729142 stop gained G/A snv 0.700 0
dbSNP: rs1567263114
rs1567263114
CREBBP
2 0.925 0.120 16 3729405 frameshift variant CT/- delins 0.700 0
dbSNP: rs1567269316
rs1567269316
CREBBP
1 1.000 0.120 16 3736104 stop gained T/A snv 0.700 0
dbSNP: rs1567277287
rs1567277287
CREBBP
1 1.000 0.120 16 3745356 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1567287477
rs1567287477
CREBBP
1 1.000 0.120 16 3757906 missense variant G/C snv 0.700 0
dbSNP: rs1567309482
rs1567309482
CREBBP
1 1.000 0.120 16 3782694 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567316655
rs1567316655
CREBBP
1 1.000 0.120 16 3792030 frameshift variant CA/- delins 0.700 0
dbSNP: rs1567318022
rs1567318022
CREBBP
1 1.000 0.120 16 3793539 frameshift variant -/T delins 0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
6 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0