Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937315
rs28937315
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28937315
rs28937315
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs587783460
rs587783460
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.710 CausalMutation CLINVAR

dbSNP: rs1057518789
rs1057518789
CREBBP
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518789
rs1057518789
CREBBP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518844
rs1057518844
CREBBP
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518844
rs1057518844
CREBBP
CUI: C0017601
Disease: Glaucoma
Glaucoma 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016