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: 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
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: rs1555484797
rs1555484797
CREBBP
1 1.000 0.120 16 3782810 stop gained G/A snv 0.700 0
dbSNP: rs1555496560
rs1555496560
CREBBP
1 1.000 0.120 16 3850587 stop gained G/A snv 0.700 0
dbSNP: rs1555496581
rs1555496581
CREBBP
1 1.000 0.120 16 3850623 frameshift variant G/- del 0.700 0
dbSNP: rs1567276741
rs1567276741
CREBBP
1 1.000 0.120 16 3744899 frameshift variant G/- del 0.700 0
dbSNP: rs1567306142
rs1567306142
CREBBP
1 1.000 0.120 16 3778723 frameshift variant -/G delins 0.700 0
dbSNP: rs1567386034
rs1567386034
CREBBP
1 1.000 0.120 16 3879832 start lost TGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGC/- delins 0.700 0
dbSNP: rs398124145
rs398124145
CREBBP
1 1.000 0.120 16 3744893 splice donor variant C/T snv 0.700 0
dbSNP: rs587783463
rs587783463
CREBBP
1 1.000 0.120 16 3792054 stop gained C/T snv 0.700 0
dbSNP: rs587783465
rs587783465
CREBBP
1 1.000 0.120 16 3781290 frameshift variant G/- del 0.700 0
dbSNP: rs587783467
rs587783467
CREBBP
1 1.000 0.120 16 3780734 frameshift variant T/- delins 0.700 0
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