DisGeNET - a database of gene-disease associations

List of associated variants

Autosomal recessive retinitis pigmentosa, C0339526

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
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	11
rs80338902	USH2A	0.790	0.200	1	216247118	missense variant	C/A	snv	9.7E-04	1.3E-03	10
rs61750200	ABCA4	0.790	0.080	1	94098928	missense variant	G/A;T	snv	1.1E-04; 8.0E-06		8
rs121909398	CERKL	0.827	0.080	2	181558617	stop gained	G/A;C	snv	3.5E-04; 4.0E-06		7
rs200691042	FAM161A	0.851	0.080	2	61839695	stop gained	T/A	snv	2.8E-04	2.9E-04	5
rs121912631	NR2E3	0.851	0.080	15	71811530	missense variant	G/A;T	snv			4
rs104893791	RHO	0.851	0.080	3	129530962	missense variant	G/A;C	snv	4.8E-05; 1.6E-05		4
rs137853291	RLBP1	0.851	0.080	15	89211750	missense variant	A/T	snv	4.4E-05	2.8E-05	4
rs28933990	RLBP1	0.851	0.080	15	89210794	missense variant	G/A;C	snv	8.6E-05; 4.8E-06		4
rs2276717	SLC7A14 ; SLC7A14-AS1	0.851	0.080	3	170483441	missense variant	C/T	snv	1.7E-03	5.9E-04	4
rs587777602	ABHD12	0.882	0.160	20	25302260	missense variant	G/C	snv			3
rs527236088	PDE6B	0.882	0.080	4	660603	missense variant	T/A	snv	4.0E-06	7.0E-06	3
rs776291294	SLC7A14 ; SLC7A14-AS1	0.882	0.080	3	170480312	missense variant	C/T	snv	1.5E-05	2.1E-05	3
rs886044720	ABCA4	0.925	0.080	1	94112973	missense variant	A/C	snv			2
rs1393259836	ADRA1A	0.925	0.080	8	26748670	frameshift variant	TT/-	del			2
rs375040930	CRB1	0.925	0.080	1	197427616	missense variant	G/A;T	snv	1.2E-05		2
rs749137757	EDNRA	0.925	0.080	4	147540465	missense variant	A/G	snv	4.1E-06		2
rs527236068	EYS	0.925	0.080	6	64081870	missense variant	C/G;T	snv	4.0E-05		2
rs755233297	SDS	0.925	0.080	12	113397367	missense variant	C/G;T	snv	8.0E-06		2
rs149672683	SP4	0.925	0.080	7	21430082	missense variant	A/G	snv	1.8E-02	6.5E-03	2
rs62636511	TULP1	0.925	0.080	6	35500010	missense variant	T/C	snv	2.0E-05		2
rs139250920	ABCA4	1.000	0.080	1	94055212	missense variant	G/A	snv	1.7E-04	2.8E-04	1
rs750180668	AKNAD1 ; CLCC1	1.000	0.080	1	108950363	missense variant	G/T	snv	4.8E-05	7.0E-06	1
rs763111500	CRB1	1.000	0.080	1	197421669	missense variant	G/T	snv	2.0E-05		1