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: rs797045487
rs797045487
CREBBP
1 1.000 0.120 16 3879915 start lost A/T snv 0.700 0
dbSNP: rs587783484
rs587783484
CREBBP
1 1.000 0.120 16 3879880 missense variant T/C snv 0.700 0
dbSNP: rs1567386034
rs1567386034
CREBBP
1 1.000 0.120 16 3879832 start lost TGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGC/- delins 0.700 0
dbSNP: rs587783515
rs587783515
CREBBP
1 1.000 0.120 16 3851011 splice acceptor variant T/G snv 0.700 0
dbSNP: rs11644721
rs11644721
CREBBP
1 1.000 0.120 16 3851010 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs797045486
rs797045486
CREBBP
1 1.000 0.120 16 3850812 frameshift variant -/G delins 0.700 0
dbSNP: rs587783476
rs587783476
CREBBP
1 1.000 0.120 16 3850809 stop gained G/A snv 0.700 0
dbSNP: rs587783477
rs587783477
CREBBP
1 1.000 0.120 16 3850796 frameshift variant C/- delins 0.700 0
dbSNP: rs587783478
rs587783478
CREBBP
1 1.000 0.120 16 3850779 stop gained G/A snv 0.700 0
dbSNP: rs797045491
rs797045491
CREBBP
1 1.000 0.120 16 3850745 frameshift variant -/AC delins 0.700 0
dbSNP: rs1555496581
rs1555496581
CREBBP
1 1.000 0.120 16 3850623 frameshift variant G/- del 0.700 0
dbSNP: rs1555496560
rs1555496560
CREBBP
1 1.000 0.120 16 3850587 stop gained G/A snv 0.700 0
dbSNP: rs587783509
rs587783509
CREBBP
1 1.000 0.120 16 3850497 stop gained G/A snv 0.700 0
dbSNP: rs797045502
rs797045502
CREBBP
1 1.000 0.120 16 3810749 frameshift variant -/AA delins 0.700 0
dbSNP: rs587783516
rs587783516
CREBBP
1 1.000 0.120 16 3810625 stop gained G/T snv 0.700 0
dbSNP: rs587783460
rs587783460
CREBBP
1 1.000 0.120 16 3793539 stop gained G/A snv 0.710 1.000 1 2016 2016
dbSNP: rs121434625
rs121434625
CREBBP
2 0.925 0.120 16 3793533 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs587783461
rs587783461
CREBBP
2 0.925 0.120 16 3793446 stop gained G/A snv 0.700 0
dbSNP: rs1302427305
rs1302427305
CREBBP
2 0.925 0.120 16 3792074 stop gained G/A snv 0.700 0
dbSNP: rs587783463
rs587783463
CREBBP
1 1.000 0.120 16 3792054 stop gained C/T snv 0.700 0
dbSNP: rs587783464
rs587783464
CREBBP
2 0.925 0.120 16 3792041 stop gained G/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: 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: rs1567306142
rs1567306142
CREBBP
1 1.000 0.120 16 3778723 frameshift variant -/G delins 0.700 0