DisGeNET - a database of gene-disease associations

List of associated variants

Bardet-Biedl Syndrome, C0752166

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
rs104893678	ARL6	0.925	0.120	3	97788004	stop gained	C/T	snv	8.0E-06		2
rs771054395	ARL6	0.882	0.120	3	97784981	missense variant	T/C	snv	3.2E-05	2.1E-05	1
rs111033570	ASTN2 ; TRIM32	0.925	0.160	9	116699201	missense variant	G/A	snv	8.0E-06		3
rs111033571	ASTN2 ; TRIM32	0.925	0.120	9	116698130	missense variant	C/T	snv	8.0E-06	1.4E-05	2
rs759376012	ASTN2 ; TRIM32	1.000	0.120	9	116698849	frameshift variant	A/-	delins	1.6E-05		1
rs1166022838	BBS1	0.925	0.120	11	66510675	frameshift variant	-/C	delins	4.0E-06		2
rs587777829	BBS1	0.925	0.120	11	66514679	splice donor variant	G/A	snv			2
rs113994178	BBS1	1.000	0.120	11	66510646	start lost	AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/-	delins			1
rs1555047409	BBS1	1.000	0.120	11	66519618	splice acceptor variant	GTCA/-	delins			1
rs772917364	BBS1	1.000	0.120	11	66510705	missense variant	A/T	snv	4.0E-06		1
rs786204444	BBS1	1.000	0.120	11	66515543	stop gained	C/T	snv	8.0E-06	1.4E-05	1
rs878855095	BBS1	1.000	0.120	11	66514662	stop gained	G/A	snv	4.0E-06	7.0E-06	1
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
rs1555202806	BBS10	1.000	0.120	12	76348313	frameshift variant	AACGCCGC/-	delins			3
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
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
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