DisGeNET - a database of gene-disease associations

List of shared variants

RUBINSTEIN-TAYBI SYNDROME 1, C4551859

Disease: Rubinstein-Taybi Syndrome

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1302427305	CREBBP	0.925	0.120	16	3792074	stop gained	G/A	snv			2
rs1555472938	CREBBP	0.925	0.120	16	3736119	frameshift variant	CA/-	delins			2
rs1555483834	CREBBP	0.925	0.120	16	3778699	splice donor variant	C/A;T	snv			2
rs1567263114	CREBBP	0.925	0.120	16	3729405	frameshift variant	CT/-	delins			2
rs200782888	CREBBP	0.925	0.120	16	3749626	splice donor variant	C/G;T	snv			2
rs267606752	CREBBP	0.925	0.120	16	3749631	missense variant	C/T	snv			2
rs587783461	CREBBP	0.925	0.120	16	3793446	stop gained	G/A	snv			2
rs587783464	CREBBP	0.925	0.120	16	3792041	stop gained	G/A	snv			2
rs587783480	CREBBP	0.925	0.120	16	3758853	splice donor variant	C/A	snv			2
rs587783483	CREBBP	0.925	0.120	16	3751725	splice donor variant	C/T	snv			2
rs587783490	CREBBP	0.925	0.120	16	3740454	stop gained	G/A	snv			2
rs587783502	CREBBP	0.925	0.120	16	3731323	inframe deletion	GAG/-	delins			2
rs587783507	CREBBP	0.925	0.120	16	3729210	frameshift variant	G/-;GG	delins			2