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: rs886041286
rs886041286
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041048
rs886041048
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312714
rs869312714
CREBBP
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312714
rs869312714
CREBBP
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312714
rs869312714
CREBBP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045502
rs797045502
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		CAA 0.700 CausalMutation CLINVAR

dbSNP: rs797045500
rs797045500
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		GCAGGCTGGGCTGCTGGTGCATGC 0.700 CausalMutation CLINVAR

dbSNP: rs797045499
rs797045499
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs797045498
rs797045498
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs797045496
rs797045496
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045495
rs797045495
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045494
rs797045494
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045492
rs797045492
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs797045491
rs797045491
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		GCA 0.700 CausalMutation CLINVAR

dbSNP: rs797045490
rs797045490
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs797045489
rs797045489
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045488
rs797045488
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		TT 0.700 CausalMutation CLINVAR

dbSNP: rs797045487
rs797045487
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045486
rs797045486
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs797045485
rs797045485
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs797045484
rs797045484
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		GG 0.700 CausalMutation CLINVAR

dbSNP: rs797045483
rs797045483
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		TG 0.700 CausalMutation CLINVAR