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: rs587783469
rs587783469
CREBBP
1 1.000 0.120 16 3778098 frameshift variant G/- del 0.700 0
dbSNP: rs587783470
rs587783470
CREBBP
1 1.000 0.120 16 3777648 frameshift variant AG/- del 0.700 0
dbSNP: rs587783471
rs587783471
CREBBP
1 1.000 0.120 16 3770915 stop gained G/T snv 0.700 0
dbSNP: rs587783473
rs587783473
CREBBP
1 1.000 0.120 16 3770843 frameshift variant GA/- delins 0.700 0
dbSNP: rs587783475
rs587783475
CREBBP
1 1.000 0.120 16 3770659 stop gained G/A snv 0.700 0
dbSNP: rs587783476
rs587783476
CREBBP
1 1.000 0.120 16 3850809 stop gained G/A snv 0.700 0
dbSNP: rs587783477
rs587783477
CREBBP
1 1.000 0.120 16 3850796 frameshift variant C/- delins 0.700 0
dbSNP: rs587783478
rs587783478
CREBBP
1 1.000 0.120 16 3850779 stop gained G/A snv 0.700 0
dbSNP: rs587783479
rs587783479
CREBBP
1 1.000 0.120 16 3758913 stop gained G/A snv 0.700 0
dbSNP: rs587783480
rs587783480
CREBBP
2 0.925 0.120 16 3758853 splice donor variant C/A snv 0.700 0
dbSNP: rs587783481
rs587783481
CREBBP
1 1.000 0.120 16 3757918 missense variant T/C snv 0.700 0
dbSNP: rs587783482
rs587783482
CREBBP
1 1.000 0.120 16 3757373 stop gained C/A snv 0.700 0
dbSNP: rs587783483
rs587783483
CREBBP
2 0.925 0.120 16 3751725 splice donor variant C/T snv 0.700 0
dbSNP: rs587783484
rs587783484
CREBBP
1 1.000 0.120 16 3879880 missense variant T/C snv 0.700 0
dbSNP: rs587783485
rs587783485
CREBBP
1 1.000 0.120 16 3745274 splice region variant C/A;T snv 0.700 0
dbSNP: rs587783486
rs587783486
CREBBP
1 1.000 0.120 16 3740551 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587783488
rs587783488
CREBBP
1 1.000 0.120 16 3740510 missense variant C/G snv 0.700 0
dbSNP: rs587783489
rs587783489
CREBBP
1 1.000 0.120 16 3740487 stop gained G/A snv 0.700 0
dbSNP: rs587783490
rs587783490
CREBBP
2 0.925 0.120 16 3740454 stop gained G/A snv 0.700 0
dbSNP: rs587783491
rs587783491
CREBBP
1 1.000 0.120 16 3740398 splice donor variant C/T snv 0.700 0
dbSNP: rs587783492
rs587783492
CREBBP
1 1.000 0.120 16 3739632 missense variant A/G snv 0.700 0
dbSNP: rs587783493
rs587783493
CREBBP
1 1.000 0.120 16 3738683 intron variant G/C;T snv 0.700 0
dbSNP: rs587783494
rs587783494
CREBBP
1 1.000 0.120 16 3738577 missense variant T/C snv 0.700 0
dbSNP: rs587783495
rs587783495
CREBBP
1 1.000 0.120 16 3736766 missense variant A/C snv 0.700 0
dbSNP: rs587783496
rs587783496
CREBBP
1 1.000 0.120 16 3736765 missense variant T/C snv 0.700 0