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: rs587783493
rs587783493
CREBBP
1.000 0.120 16 3738683 intron variant G/C;T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555475250
rs1555475250
CREBBP
16 3744921 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1963 2017
dbSNP: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1963 2017
dbSNP: rs1057518789
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1057518789
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121434624
rs121434624
CREBBP
1.000 0.120 16 3850689 stop gained G/A;C snv 4.0E-06
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs121434625
rs121434625
CREBBP
0.925 0.120 16 3793533 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1302427305
rs1302427305
CREBBP
0.925 0.120 16 3792074 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1302427305
rs1302427305
CREBBP
0.925 0.120 16 3792074 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs147688139
rs147688139
CREBBP
1.000 0.120 16 3736812 stop gained A/G;T snv 4.0E-06
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555471077
rs1555471077
CREBBP
1.000 0.120 16 3728772 stop gained G/C snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1555471874
rs1555471874
CREBBP
1.000 0.120 16 3731350 stop gained T/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555472931
rs1555472931
CREBBP
1.000 0.120 16 3736101 stop gained C/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		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: 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: 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: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		0.700 0
dbSNP: rs587783460
rs587783460
CREBBP
1.000 0.120 16 3793539 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.710 1.000 0 2016 2016
dbSNP: rs587783461
rs587783461
CREBBP
0.925 0.120 16 3793446 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783461
rs587783461
CREBBP
0.925 0.120 16 3793446 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0