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: rs797045500
rs797045500
CREBBP
1 1.000 0.120 16 3728629 frameshift variant -/CTGCTGGTGCATGCCAGGCTGGG delins 0.700 0
dbSNP: rs587783511
rs587783511
CREBBP
1 1.000 0.120 16 3728876 inframe deletion CGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCA/- delins 0.700 0
dbSNP: rs797045499
rs797045499
CREBBP
1 1.000 0.120 16 3728931 frameshift variant ACAGGCCTGG/- del 0.700 0
dbSNP: rs587783510
rs587783510
CREBBP
1 1.000 0.120 16 3728959 stop gained G/A snv 0.700 0
dbSNP: rs797045498
rs797045498
CREBBP
1 1.000 0.120 16 3729110 frameshift variant -/A ins 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: rs587783508
rs587783508
CREBBP
1 1.000 0.120 16 3729178 frameshift variant C/- delins 0.700 0
dbSNP: rs587783506
rs587783506
CREBBP
1 1.000 0.120 16 3729203 frameshift variant CGGGGGTGGGG/- del 0.700 0
dbSNP: rs587783507
rs587783507
CREBBP
2 0.925 0.120 16 3729210 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs587783505
rs587783505
CREBBP
1 1.000 0.120 16 3729226 stop gained G/A snv 0.700 0
dbSNP: rs1555471323
rs1555471323
CREBBP
1 1.000 0.120 16 3729344 frameshift variant GTGTGCTGGG/- delins 0.700 0
dbSNP: rs1567263114
rs1567263114
CREBBP
2 0.925 0.120 16 3729405 frameshift variant CT/- delins 0.700 1.000 3 2005 2011
dbSNP: rs797045037
rs797045037
CREBBP
1 1.000 0.120 16 3729433 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs797045496
rs797045496
CREBBP
1 1.000 0.120 16 3729635 missense variant G/T snv 0.700 0
dbSNP: rs587783503
rs587783503
CREBBP
1 1.000 0.120 16 3731314 missense variant A/G snv 0.700 0
dbSNP: rs587783502
rs587783502
CREBBP
2 0.925 0.120 16 3731323 inframe deletion GAG/- delins 0.700 0
dbSNP: rs797045495
rs797045495
CREBBP
1 1.000 0.120 16 3731337 stop gained C/T snv 0.700 0
dbSNP: rs1555471874
rs1555471874
CREBBP
1 1.000 0.120 16 3731350 stop gained T/A snv 0.700 0
dbSNP: rs587783500
rs587783500
CREBBP
1 1.000 0.120 16 3731874 frameshift variant T/- delins 0.700 0
dbSNP: rs587783499
rs587783499
CREBBP
1 1.000 0.120 16 3736075 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: rs1555472938
rs1555472938
CREBBP
2 0.925 0.120 16 3736119 frameshift variant CA/- delins 0.700 0
dbSNP: rs587783497
rs587783497
CREBBP
1 1.000 0.120 16 3736702 missense variant T/C snv 0.700 0
dbSNP: rs587783496
rs587783496
CREBBP
1 1.000 0.120 16 3736765 missense variant T/C snv 0.700 0
dbSNP: rs587783495
rs587783495
CREBBP
1 1.000 0.120 16 3736766 missense variant A/C snv 0.700 0