Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783516
rs587783516
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783515
rs587783515
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587783511
rs587783511
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587783510
rs587783510
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783509
rs587783509
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783508
rs587783508
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783507
rs587783507
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs587783507
rs587783507
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs587783507
rs587783507
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783506
rs587783506
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587783505
rs587783505
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783503
rs587783503
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587783502
rs587783502
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783502
rs587783502
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783500
rs587783500
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587783499
rs587783499
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783497
rs587783497
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587783496
rs587783496
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587783495
rs587783495
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587783494
rs587783494
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587783493
rs587783493
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587783492
rs587783492
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587783491
rs587783491
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783490
rs587783490
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783490
rs587783490
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		A 0.700 CausalMutation CLINVAR