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: rs587783463
rs587783463
CREBBP
1.000 0.120 16 3792054 stop gained C/T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783464
rs587783464
CREBBP
0.925 0.120 16 3792041 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs587783464
rs587783464
CREBBP
0.925 0.120 16 3792041 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783471
rs587783471
CREBBP
1.000 0.120 16 3770915 stop gained G/T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783475
rs587783475
CREBBP
1.000 0.120 16 3770659 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783476
rs587783476
CREBBP
1.000 0.120 16 3850809 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783478
rs587783478
CREBBP
1.000 0.120 16 3850779 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783479
rs587783479
CREBBP
1.000 0.120 16 3758913 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783482
rs587783482
CREBBP
1.000 0.120 16 3757373 stop gained C/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783489
rs587783489
CREBBP
1.000 0.120 16 3740487 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783490
rs587783490
CREBBP
0.925 0.120 16 3740454 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783490
rs587783490
CREBBP
0.925 0.120 16 3740454 stop gained G/A snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs587783505
rs587783505
CREBBP
1.000 0.120 16 3729226 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783509
rs587783509
CREBBP
1.000 0.120 16 3850497 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783510
rs587783510
CREBBP
1.000 0.120 16 3728959 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs587783516
rs587783516
CREBBP
1.000 0.120 16 3810625 stop gained G/T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs797045488
rs797045488
CREBBP
1.000 0.120 16 3767885 stop gained CTCCTTGCA/TT delins
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs797045489
rs797045489
CREBBP
1.000 0.120 16 3757982 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs797045495
rs797045495
CREBBP
1.000 0.120 16 3731337 stop gained C/T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0
dbSNP: rs1555471813
rs1555471813
CREBBP
1.000 16 3731235 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1963 2017
dbSNP: rs1555473499
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1963 2017
dbSNP: rs1555473499
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 1963 2017
dbSNP: rs1555473499
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1963 2017
dbSNP: rs797044860
rs797044860
CREBBP
0.925 0.120 16 3736801 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1963 2017
dbSNP: rs797044860
rs797044860
CREBBP
0.925 0.120 16 3736801 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 1963 2017