Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1302427305
CREBBP
0.925 0.120 16 3792074 stop gained G/A snv 2
rs1555472938
CREBBP
0.925 0.120 16 3736119 frameshift variant CA/- delins 2
rs1555483834
CREBBP
0.925 0.120 16 3778699 splice donor variant C/A;T snv 2
rs1567263114
CREBBP
0.925 0.120 16 3729405 frameshift variant CT/- delins 2
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
rs587783461
CREBBP
0.925 0.120 16 3793446 stop gained G/A snv 2
rs587783464
CREBBP
0.925 0.120 16 3792041 stop gained G/A snv 2
rs587783480
CREBBP
0.925 0.120 16 3758853 splice donor variant C/A snv 2
rs587783483
CREBBP
0.925 0.120 16 3751725 splice donor variant C/T snv 2
rs587783490
CREBBP
0.925 0.120 16 3740454 stop gained G/A snv 2
rs587783502
CREBBP
0.925 0.120 16 3731323 inframe deletion GAG/- delins 2
rs587783507
CREBBP
0.925 0.120 16 3729210 frameshift variant G/-;GG delins 2
rs11644721
CREBBP
1.000 0.120 16 3851010 splice acceptor variant C/A;T snv 1
rs121434625
CREBBP
0.925 0.120 16 3793533 stop gained G/A snv 1
rs147688139
CREBBP
1.000 0.120 16 3736812 stop gained A/G;T snv 4.0E-06 1
rs1555471323
CREBBP
1.000 0.120 16 3729344 frameshift variant GTGTGCTGGG/- delins 1
rs1555471874
CREBBP
1.000 0.120 16 3731350 stop gained T/A snv 1
rs1555472931
CREBBP
1.000 0.120 16 3736101 stop gained C/A snv 1
rs1555473491
CREBBP
1.000 0.120 16 3738559 missense variant C/T snv 1
rs1555473668
CREBBP
1.000 0.120 16 3739627 frameshift variant -/A delins 1
rs1555475352
CREBBP
1.000 0.120 16 3745276 splice donor variant C/A snv 1
rs1555481030
CREBBP
1.000 0.120 16 3767910 splice acceptor variant C/A snv 1
rs1555484797
CREBBP
1.000 0.120 16 3782810 stop gained G/A snv 1