Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555473491
rs1555473491
CREBBP
1.000 0.120 16 3738559 missense variant C/T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555473668
rs1555473668
CREBBP
1.000 0.120 16 3739627 frameshift variant -/A delins
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555475352
rs1555475352
CREBBP
1.000 0.120 16 3745276 splice donor variant C/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555481030
rs1555481030
CREBBP
1.000 0.120 16 3767910 splice acceptor variant C/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555483716
rs1555483716
CREBBP
1.000 0.120 16 3778093 frameshift variant G/- del
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1555483834
rs1555483834
CREBBP
0.925 0.120 16 3778699 splice donor variant C/A;T snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1555484797
rs1555484797
CREBBP
1.000 0.120 16 3782810 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555496560
rs1555496560
CREBBP
1.000 0.120 16 3850587 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555496581
rs1555496581
CREBBP
1.000 0.120 16 3850623 frameshift variant G/- del
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1567262537
rs1567262537
CREBBP
1.000 0.120 16 3729142 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1567263114
rs1567263114
CREBBP
0.925 0.120 16 3729405 frameshift variant CT/- delins
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs1567269316
rs1567269316
CREBBP
1.000 0.120 16 3736104 stop gained T/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1567276741
rs1567276741
CREBBP
1.000 0.120 16 3744899 frameshift variant G/- del
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1567277287
rs1567277287
CREBBP
1.000 0.120 16 3745356 splice acceptor variant T/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1567287477
rs1567287477
CREBBP
1.000 0.120 16 3757906 missense variant G/C snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0