DisGeNET - a database of gene-disease associations

List of associated variants

BARDET-BIEDL SYNDROME 10, C1859568

Source: ALL

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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
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs758522600	BBS10	0.851	0.240	12	76347023	frameshift variant	CTAA/-	delins	4.0E-06	2.8E-05	7
rs1555202697	BBS10	0.882	0.160	12	76347446	missense variant	C/T	snv			5
rs727503818	BBS10	0.882	0.120	12	76346894	frameshift variant	T/-	delins	6.8E-05	4.9E-05	3
rs1064796315	BBS10	0.925	0.120	12	76345955	frameshift variant	C/-	delins		2.8E-05	2
rs1156913215	BBS10	0.925	0.120	12	76347219	stop gained	G/A;C	snv			2
rs1460517643	BBS10	0.925	0.120	12	76348195	missense variant	A/G	snv		2.1E-05	2
rs148374859	BBS10	0.925	0.120	12	76347712	missense variant	G/C	snv	2.8E-05	4.2E-05	2
rs1555202584	BBS10	0.925	0.120	12	76346308	frameshift variant	G/-	del			2
rs375413604	BBS10	0.925	0.120	12	76346308	stop gained	G/A;C;T	snv	2.0E-05; 4.0E-06; 4.0E-05		2
rs587777837	BBS10	0.925	0.120	12	76346940	frameshift variant	AA/-	delins			2
rs756632517	BBS10	0.925	0.120	12	76347395	missense variant	T/C	snv	4.0E-06		2
rs761101213	BBS10	0.925	0.120	12	76347298	frameshift variant	A/-	del	2.0E-05	2.1E-05	2
rs775950661	BBS10	0.925	0.120	12	76345865	frameshift variant	CA/-	delins	6.4E-05	3.5E-05	2
rs780059308	BBS10	0.925	0.120	12	76347073	frameshift variant	GACT/-	delins	1.6E-05	2.8E-05	2
rs786204671	BBS10	0.925	0.120	12	76347254	frameshift variant	TTCT/-	delins			2
rs863224522	BBS10	0.925	0.120	12	76347454	stop gained	G/T	snv			2
rs1000990130	BBS10	1.000	0.120	12	76346999	missense variant	G/A	snv		7.0E-06	1
rs1057516240	BBS10	1.000	0.120	12	76347624	stop gained	T/A	snv			1
rs1057516266	BBS10	1.000	0.120	12	76347414	frameshift variant	AAAT/-	delins	4.0E-06	7.0E-06	1
rs1057516623	BBS10	1.000	0.120	12	76346929	frameshift variant	T/-	del			1
rs1057516628	BBS10	1.000	0.120	12	76346026	frameshift variant	G/-	del			1
rs1057516669	BBS10	1.000	0.120	12	76346317	frameshift variant	CTATT/-	delins			1
rs1057516701	BBS10	1.000	0.120	12	76347680	frameshift variant	CTGTGAT/-	delins			1