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: rs398124146
rs398124146
CREBBP
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 0
dbSNP: rs1555483834
rs1555483834
CREBBP
2 0.925 0.120 16 3778699 splice donor variant C/A;T snv 0.700 1.000 3 2006 2016
dbSNP: rs1567263114
rs1567263114
CREBBP
2 0.925 0.120 16 3729405 frameshift variant CT/- delins 0.700 1.000 3 2005 2011
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: rs121434625
rs121434625
CREBBP
2 0.925 0.120 16 3793533 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1302427305
rs1302427305
CREBBP
2 0.925 0.120 16 3792074 stop gained G/A snv 0.700 0
dbSNP: rs1555472938
rs1555472938
CREBBP
2 0.925 0.120 16 3736119 frameshift variant CA/- delins 0.700 0
dbSNP: rs267606752
rs267606752
CREBBP
2 0.925 0.120 16 3749631 missense variant C/T snv 0.700 0
dbSNP: rs587783461
rs587783461
CREBBP
2 0.925 0.120 16 3793446 stop gained G/A snv 0.700 0
dbSNP: rs587783464
rs587783464
CREBBP
2 0.925 0.120 16 3792041 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: rs587783483
rs587783483
CREBBP
2 0.925 0.120 16 3751725 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: rs587783502
rs587783502
CREBBP
2 0.925 0.120 16 3731323 inframe deletion GAG/- delins 0.700 0
dbSNP: rs587783507
rs587783507
CREBBP
2 0.925 0.120 16 3729210 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs112906840
rs112906840
CREBBP
1 1.000 0.120 16 3729114 missense variant T/A;C snv 4.9E-06; 5.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs587783460
rs587783460
CREBBP
1 1.000 0.120 16 3793539 stop gained G/A snv 0.710 1.000 1 2016 2016
dbSNP: rs797045037
rs797045037
CREBBP
1 1.000 0.120 16 3729433 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs11644721
rs11644721
CREBBP
1 1.000 0.120 16 3851010 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs147688139
rs147688139
CREBBP
1 1.000 0.120 16 3736812 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555471323
rs1555471323
CREBBP
1 1.000 0.120 16 3729344 frameshift variant GTGTGCTGGG/- delins 0.700 0
dbSNP: rs1555471874
rs1555471874
CREBBP
1 1.000 0.120 16 3731350 stop gained T/A snv 0.700 0
dbSNP: rs1555472931
rs1555472931
CREBBP
1 1.000 0.120 16 3736101 stop gained C/A snv 0.700 0
dbSNP: rs1555473491
rs1555473491
CREBBP
1 1.000 0.120 16 3738559 missense variant C/T snv 0.700 0
dbSNP: rs1555473668
rs1555473668
CREBBP
1 1.000 0.120 16 3739627 frameshift variant -/A delins 0.700 0