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
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs121908175	BBS2	0.790	0.160	16	56519791	stop gained	G/C	snv	5.2E-05	2.8E-05	8
rs886039797	BBS2	0.807	0.280	16	56502807	missense variant	A/C	snv	4.0E-06		7
rs786205636	BBS5	0.827	0.320	2	169493750	missense variant	G/A	snv			7
rs886039800	BBS4	0.851	0.240	15	72735944	frameshift variant	G/-	del			6
rs886039802	BBS4	0.851	0.200	15	72712259	stop gained	C/T	snv			6
rs886039801	BBS9	0.851	0.240	7	33388145	splice donor variant	G/A	snv			6
rs1553794304	PIGX ; CEP19	0.851	0.160	3	196707860	stop gained	-/T	delins			6
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs121908179	BBS2	0.827	0.120	16	56514487	missense variant	T/G	snv	4.4E-05	2.8E-05	5
rs567573386	BBS2	0.882	0.120	16	56484820	stop gained	G/A	snv	3.2E-05	1.4E-05	5
rs749974697	BBS9	0.851	0.240	7	33152851	stop gained	C/A;T	snv	4.0E-06; 1.6E-05		5
rs775081992	BBS9	0.851	0.240	7	33152811	stop gained	C/T	snv	2.0E-05		5
rs797044604	CEP290	0.827	0.280	12	88086450	stop gained	C/A	snv			5
rs74315396	MKKS	0.827	0.240	20	10413405	missense variant	T/C	snv	6.8E-05	1.1E-04	5
rs119103286	TTC8	0.851	0.280	14	88841196	missense variant	G/A	snv	6.4E-05	3.5E-05	5
rs111033570	ASTN2 ; TRIM32	0.925	0.160	9	116699201	missense variant	G/A	snv	8.0E-06		4
rs138043021	BBS2	0.851	0.120	16	56496982	missense variant	C/G;T	snv	1.2E-04; 2.0E-05		4
rs886039798	ZDHHC24 ; BBS1	0.925	0.120	11	66529902	frameshift variant	-/T	delins			4
rs771054395	ARL6	0.882	0.120	3	97784981	missense variant	T/C	snv	3.2E-05	2.1E-05	3
rs1555202806	BBS10	1.000	0.120	12	76348313	frameshift variant	AACGCCGC/-	delins			3