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
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs397515335	MIR4677 ; SDCCAG8	0.925	0.120	1	243344277	frameshift variant	G/-	delins			2
rs786205636	BBS5	0.827	0.320	2	169493750	missense variant	G/A	snv			7
rs1054138918	BBS5	0.925	0.120	2	169487068	splice acceptor variant	G/C	snv	4.0E-05		2
rs121908581	BBS5	0.925	0.120	2	169487811	missense variant	G/A	snv		7.0E-06	2
rs1272140892	BBS5	1.000	0.120	2	169482312	frameshift variant	A/-	delins			1
rs1466289570	BBS5	1.000	0.120	2	169503094	splice acceptor variant	G/A;T	snv	1.2E-05		1
rs1559121920	BBS5	1.000	0.120	2	169487092	missense variant	A/G	snv			1
rs190983114	NPHP1	1.000	0.120	2	110204955	missense variant	C/A	snv	7.5E-03	3.6E-03	1
rs772757329	BBS5	1.000	0.120	2	169487993	stop gained	C/T	snv	1.2E-05	7.0E-06	1
rs1553794304	PIGX ; CEP19	0.851	0.160	3	196707860	stop gained	-/T	delins			6
rs771054395	ARL6	0.882	0.120	3	97784981	missense variant	T/C	snv	3.2E-05	2.1E-05	3
rs104893678	ARL6	0.925	0.120	3	97788004	stop gained	C/T	snv	8.0E-06		2
rs515726135	LZTFL1	0.925	0.120	3	45835653	missense variant	A/G	snv			2
rs515726136	LZTFL1 ; LOC107986083	0.925	0.120	3	45827459	stop gained	C/A	snv	8.0E-06		2
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs119466002	BBS7	0.882	0.120	4	121854790	missense variant	G/A	snv	8.0E-06	6.3E-05	3
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
rs752202089	BBS12	0.925	0.120	4	122743915	stop gained	C/T	snv	8.1E-06	7.0E-06	2
rs770872200	BBS12	0.925	0.120	4	122742574	frameshift variant	-/T	ins		1.4E-05	2
rs863224530	BBS7	0.925	0.120	4	121859130	frameshift variant	GT/-	del			2