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: rs147688139
rs147688139
CREBBP
1 1.000 0.120 16 3736812 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555473491
rs1555473491
CREBBP
1 1.000 0.120 16 3738559 missense variant 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: rs398124146
rs398124146
CREBBP
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 0
dbSNP: rs797045494
rs797045494
CREBBP
1 1.000 0.120 16 3738672 missense variant C/A 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: rs1555473668
rs1555473668
CREBBP
1 1.000 0.120 16 3739627 frameshift variant -/A delins 0.700 0
dbSNP: rs587783492
rs587783492
CREBBP
1 1.000 0.120 16 3739632 missense variant A/G 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: rs587783490
rs587783490
CREBBP
2 0.925 0.120 16 3740454 stop gained G/A snv 0.700 0
dbSNP: rs587783489
rs587783489
CREBBP
1 1.000 0.120 16 3740487 stop gained G/A snv 0.700 0
dbSNP: rs587783488
rs587783488
CREBBP
1 1.000 0.120 16 3740510 missense variant C/G 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: rs398124145
rs398124145
CREBBP
1 1.000 0.120 16 3744893 splice donor variant C/T snv 0.700 0
dbSNP: rs1567276741
rs1567276741
CREBBP
1 1.000 0.120 16 3744899 frameshift variant G/- del 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: rs1555475352
rs1555475352
CREBBP
1 1.000 0.120 16 3745276 splice donor variant C/A snv 0.700 0
dbSNP: rs200782888
rs200782888
CREBBP
2 0.925 0.120 16 3749626 splice donor variant C/G;T snv 0.700 1.000 3 2005 2008
dbSNP: rs267606752
rs267606752
CREBBP
2 0.925 0.120 16 3749631 missense variant C/T 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: rs587783482
rs587783482
CREBBP
1 1.000 0.120 16 3757373 stop gained 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: rs797045492
rs797045492
CREBBP
1 1.000 0.120 16 3757928 missense variant C/G snv 0.700 0
dbSNP: rs797045490
rs797045490
CREBBP
1 1.000 0.120 16 3757956 frameshift variant -/A delins 0.700 0
dbSNP: rs797045489
rs797045489
CREBBP
1 1.000 0.120 16 3757982 stop gained G/A snv 0.700 0