DisGeNET - a database of gene-disease associations

List of associated variants

RUBINSTEIN-TAYBI SYNDROME 1, C4551859

Source: INFERRED ×

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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	Num. diseases
rs199821421	CREBBP	0.827	0.160	16	3728723	stop gained	G/A;T	snv	5.2E-05	6
rs1555473499	CREBBP	0.925	0.120	16	3738605	missense variant	A/G	snv		3
rs869312714	CREBBP	0.925	0.120	16	3729810	missense variant	C/A	snv		3
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
rs797044860	CREBBP	0.925	0.120	16	3736801	missense variant	T/C	snv		2
rs565779970	EP300	0.925	0.120	22	41158483	stop gained	T/A;C	snv	3.2E-05	2
rs121434624	CREBBP	1.000	0.120	16	3850689	stop gained	G/A;C	snv	4.0E-06	1
rs121434625	CREBBP	0.925	0.120	16	3793533	stop gained	G/A	snv		1
rs121434626	CREBBP	1.000	0.120	16	3740399	missense variant	C/G	snv		1
rs1555470631	CREBBP	1.000	0.120	16	3727471	stop lost	AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G	delins		1
rs1555471077	CREBBP	1.000	0.120	16	3728772	stop gained	G/C	snv		1
rs1555473122	CREBBP	1.000	0.120	16	3736772	inframe deletion	CCT/-	delins		1
rs1555483716	CREBBP	1.000	0.120	16	3778093	frameshift variant	G/-	del		1