DisGeNET - a database of gene-disease associations

List of associated variants

Retinitis Pigmentosa, C0035334

Source: CURATED ×

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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	17
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs121908175	BBS2	0.790	0.160	16	56519791	stop gained	G/C	snv	5.2E-05	2.8E-05	8
rs1800728	ABCA4	0.807	0.080	1	94011395	intron variant	A/G	snv	2.3E-04	3.0E-04	8
rs2723341	NR2E3	0.807	0.160	15	71811481	splice acceptor variant	A/C	snv	5.3E-04	5.1E-04	8
rs61751374	ABCA4	0.776	0.160	1	94043413	missense variant	G/A	snv	1.7E-03	1.7E-03	8
rs111033334	USH2A	0.790	0.200	1	216247185	stop gained	G/A	snv	8.0E-06		7
rs111033364	USH2A	0.807	0.200	1	215728232	stop gained	C/T	snv	9.2E-05	1.2E-04	7
rs386834152	CEP290	0.790	0.280	12	88114488	stop gained	G/A	snv	5.1E-05	4.9E-05	7
rs62645748	CRB1	0.807	0.080	1	197434706	missense variant	G/A	snv	2.1E-04	2.2E-04	7
rs786205636	BBS5	0.827	0.320	2	169493750	missense variant	G/A	snv			7
rs121909398	CERKL	0.827	0.080	2	181558617	stop gained	G/A;C	snv	3.5E-04; 4.0E-06		6
rs61751392	ABCA4	0.827	0.080	1	94063250	missense variant	A/G	snv	1.5E-04	1.7E-04	6
rs62645944	ABCA4	0.807	0.080	1	94098794	splice region variant	C/A	snv	8.8E-05	6.3E-05	6
rs76157638	ABCA4	0.851	0.080	1	94051698	missense variant	C/G;T	snv	4.4E-03; 4.0E-06		6
rs80338902	USH2A	0.790	0.200	1	216247118	missense variant	C/A	snv	9.7E-04	1.3E-03	6
rs886039801	BBS9	0.851	0.240	7	33388145	splice donor variant	G/A	snv			6
rs121908179	BBS2	0.827	0.120	16	56514487	missense variant	T/G	snv	4.4E-05	2.8E-05	5
rs29001566	RHO	0.807	0.080	3	129533711	missense variant	C/A;G;T	snv			5
rs397518039	USH2A	0.851	0.200	1	215877882	splice acceptor variant	T/C	snv	3.2E-05		5
rs749974697	BBS9	0.851	0.240	7	33152851	stop gained	C/A;T	snv	4.0E-06; 1.6E-05		5
rs773372123	LOC105371046 ; IFT140	0.851	0.160	16	1587209	missense variant	C/T	snv	2.0E-05		5
rs786200928	USH2A	0.827	0.200	1	215891198	intron variant	T/C	snv		4.2E-05	5
rs104893793	RHO	0.851	0.080	3	129531005	missense variant	C/A;T	snv	4.0E-06		4