Gene: CREBBP ×
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: rs1555473668
rs1555473668
CREBBP
1 1.000 0.120 16 3739627 frameshift variant -/A delins 0.700 0
dbSNP: rs797045490
rs797045490
CREBBP
1 1.000 0.120 16 3757956 frameshift variant -/A delins 0.700 0
dbSNP: rs797045498
rs797045498
CREBBP
1 1.000 0.120 16 3729110 frameshift variant -/A ins 0.700 0
dbSNP: rs797045502
rs797045502
CREBBP
1 1.000 0.120 16 3810749 frameshift variant -/AA delins 0.700 0
dbSNP: rs797045491
rs797045491
CREBBP
1 1.000 0.120 16 3850745 frameshift variant -/AC delins 0.700 0
dbSNP: rs797045500
rs797045500
CREBBP
1 1.000 0.120 16 3728629 frameshift variant -/CTGCTGGTGCATGCCAGGCTGGG delins 0.700 0
dbSNP: rs1567306142
rs1567306142
CREBBP
1 1.000 0.120 16 3778723 frameshift variant -/G delins 0.700 0
dbSNP: rs797045483
rs797045483
CREBBP
1 1.000 0.120 16 3774673 frameshift variant -/G delins 0.700 0
dbSNP: rs797045485
rs797045485
CREBBP
1 1.000 0.120 16 3770639 frameshift variant -/G delins 0.700 0
dbSNP: rs797045486
rs797045486
CREBBP
1 1.000 0.120 16 3850812 frameshift variant -/G delins 0.700 0
dbSNP: rs587783495
rs587783495
CREBBP
1 1.000 0.120 16 3736766 missense variant A/C snv 0.700 0
dbSNP: rs587783492
rs587783492
CREBBP
1 1.000 0.120 16 3739632 missense variant A/G snv 0.700 0
dbSNP: rs587783503
rs587783503
CREBBP
1 1.000 0.120 16 3731314 missense variant A/G 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: rs797045487
rs797045487
CREBBP
1 1.000 0.120 16 3879915 start lost A/T snv 0.700 0
dbSNP: rs797045499
rs797045499
CREBBP
1 1.000 0.120 16 3728931 frameshift variant ACAGGCCTGG/- del 0.700 0
dbSNP: rs587783470
rs587783470
CREBBP
1 1.000 0.120 16 3777648 frameshift variant AG/- del 0.700 0
dbSNP: rs587783477
rs587783477
CREBBP
1 1.000 0.120 16 3850796 frameshift variant C/- delins 0.700 0
dbSNP: rs587783499
rs587783499
CREBBP
1 1.000 0.120 16 3736075 frameshift variant C/- delins 0.700 0
dbSNP: rs587783508
rs587783508
CREBBP
1 1.000 0.120 16 3729178 frameshift variant C/- delins 0.700 0
dbSNP: rs1555472931
rs1555472931
CREBBP
1 1.000 0.120 16 3736101 stop gained C/A 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: rs1555481030
rs1555481030
CREBBP
1 1.000 0.120 16 3767910 splice acceptor variant C/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: rs587783482
rs587783482
CREBBP
1 1.000 0.120 16 3757373 stop gained C/A snv 0.700 0