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: rs28937315
rs28937315
CREBBP
1.000 0.120 16 3757894 missense variant T/C snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.800 1.000 0 2001 2015
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: 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: 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: rs1555478331
rs1555478331
CREBBP
16 3757990 frameshift variant T/- del
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: 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
dbSNP: rs1555483834
rs1555483834
CREBBP
0.925 0.120 16 3778699 splice donor variant C/A;T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 1.000 3 2006 2016
dbSNP: rs1567263114
rs1567263114
CREBBP
0.925 0.120 16 3729405 frameshift variant CT/- delins
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 1.000 3 2005 2011
dbSNP: rs200782888
rs200782888
CREBBP
0.925 0.120 16 3749626 splice donor variant C/G;T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 1.000 3 2005 2008
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016