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: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C 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: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs797045037
rs797045037
CREBBP
1.000 0.120 16 3729433 missense variant T/C snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 1.000 1 2016 2016
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: rs1057518844
rs1057518844
CREBBP
1.000 0.040 16 3757288 missense variant C/T snv
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		0.700 0
dbSNP: rs1057518844
rs1057518844
CREBBP
1.000 0.040 16 3757288 missense variant C/T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.700 0
dbSNP: rs11644721
rs11644721
CREBBP
1.000 0.120 16 3851010 splice acceptor variant C/A;T snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		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: rs121434626
rs121434626
CREBBP
1.000 0.120 16 3740399 missense variant C/G 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: rs1555470631
rs1555470631
CREBBP
1.000 0.120 16 3727471 stop lost AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G delins
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		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: rs1555471098
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs1555471098
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0