DisGeNET - a database of gene-disease associations

List of associated variants

Bardet-Biedl Syndrome, C0752166

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
rs727503818	BBS10	0.882	0.120	12	76346894	frameshift variant	T/-	delins	6.8E-05	4.9E-05	3
rs121908177	BBS2	0.882	0.120	16	56502790	stop gained	G/A	snv	1.9E-04	9.8E-05	3
rs773862084	BBS2	0.882	0.120	16	56510858	splice donor variant	C/A	snv	9.9E-05	3.5E-05	3
rs119466002	BBS7	0.882	0.120	4	121854790	missense variant	G/A	snv	8.0E-06	6.3E-05	3
rs606231137	BBS9	0.882	0.120	7	33383752	frameshift variant	AACA/-	delins			3
rs104893678	ARL6	0.925	0.120	3	97788004	stop gained	C/T	snv	8.0E-06		2
rs111033571	ASTN2 ; TRIM32	0.925	0.120	9	116698130	missense variant	C/T	snv	8.0E-06	1.4E-05	2
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
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
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
rs1269565757	BBS12	0.925	0.120	4	122743267	stop gained	C/T	snv		1.4E-05	2
rs138011813	BBS12	0.925	0.120	4	122743394	missense variant	C/T	snv	3.6E-05	2.0E-04	2
rs1397714772	BBS12	0.925	0.120	4	122742155	frameshift variant	TT/-	delins		1.4E-05	2
rs1553941369	BBS12	0.925	0.120	4	122742900	frameshift variant	GT/-	delins			2
rs587777803	BBS12	0.925	0.120	4	122743006	frameshift variant	TT/-	delins			2