DisGeNET - a database of gene-disease associations

List of associated variants

Bardet-Biedl syndrome 1 (disorder), C2936862

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
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs775769424	BBS1 ; ZDHHC24	0.776	0.280	11	66530934	frameshift variant	TG/-	del		1.4E-05	11
rs386834180	TMEM67	0.776	0.360	8	93781725	missense variant	T/C	snv	2.0E-05	4.2E-05	8
rs74315396	MKKS	0.827	0.240	20	10413405	missense variant	T/C	snv	6.8E-05	1.1E-04	5
rs727503818	BBS10	0.882	0.120	12	76346894	frameshift variant	T/-	delins	6.8E-05	4.9E-05	3
rs606231137	BBS9	0.882	0.120	7	33383752	frameshift variant	AACA/-	delins			3
rs749435317	TMEM67	0.882	0.280	8	93786287	frameshift variant	A/-	del			3
rs1166022838	BBS1	0.925	0.120	11	66510675	frameshift variant	-/C	delins	4.0E-06		2
rs376894444	BBS1	0.925	0.120	11	66515586	missense variant	G/A	snv	2.8E-05	2.8E-05	2
rs587777829	BBS1	0.925	0.120	11	66514679	splice donor variant	G/A	snv			2
rs1460517643	BBS10	0.925	0.120	12	76348195	missense variant	A/G	snv		2.1E-05	2
rs1057517332	BBS1 ; ZDHHC24	0.925	0.120	11	66523454	splice acceptor variant	A/G	snv	4.0E-06		2
rs768443448	BBS1 ; ZDHHC24	0.925	0.120	11	66526753	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		2
rs138410949	KIF7	0.925	0.120	15	89631625	missense variant	T/C	snv	1.6E-03	2.0E-03	2
rs1057516533	ZDHHC24 ; BBS1	0.925	0.120	11	66523842	frameshift variant	T/-	delins			2
rs1060503690	ZDHHC24 ; BBS1	0.925	0.120	11	66526708	stop gained	G/T	snv			2
rs113994179	ZDHHC24 ; BBS1	0.925	0.120	11	66523453	splice region variant	C/G;T	snv	4.0E-06; 4.0E-06		2
rs121917777	ZDHHC24 ; BBS1	0.925	0.120	11	66531692	stop gained	G/A;T	snv	4.0E-06; 1.6E-05		2
rs587777830	ZDHHC24 ; BBS1	0.925	0.120	11	66523476	frameshift variant	A/-	del			2
rs746875134	ZDHHC24 ; BBS1	0.925	0.120	11	66523577	splice donor variant	G/A;C	snv	8.0E-06; 4.0E-06		2
rs1057516449	BBS1	1.000	0.120	11	66511090	splice donor variant	G/A;C	snv			1
rs1057516451	BBS1	1.000	0.120	11	66514469	frameshift variant	CT/-	del			1
rs1057516502	BBS1	1.000	0.120	11	66515859	splice acceptor variant	A/G	snv			1
rs1057516507	BBS1	1.000	0.120	11	66511241	splice donor variant	T/A	snv			1