DisGeNET - a database of gene-disease associations

List of associated variants

Exudative vitreoretinopathy 1, C1851402

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
rs80358284	PRSS23 ; FZD4	0.790	0.240	11	86952443	missense variant	T/A;C	snv	4.0E-06; 2.4E-05		10
rs878853243	TSPAN12	0.851	0.160	7	120806619	missense variant	C/A	snv			4
rs1057519379	CTNNB1	0.882	0.080	3	41233777	frameshift variant	-/C	ins			3
rs748653573	CTNNB1	0.882	0.080	3	41238067	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		3
rs61735304	FZD4 ; FZD4-DT	0.882	0.080	11	86954989	missense variant	G/A	snv	1.7E-02	1.3E-02	3
rs80358294	PRSS23 ; FZD4	0.882	0.080	11	86951506	missense variant	C/G;T	snv	1.2E-05		3
rs373273223	ZNF408	0.882	0.080	11	46705063	missense variant	C/T	snv	1.2E-05	2.8E-05	3
rs1057519380	CTNNB1	0.925	0.080	3	41239137	stop gained	-/TAGCTATCGTTCTTTT	delins			2
rs80358282	FZD4-DT ; FZD4	0.925	0.080	11	86954881	missense variant	G/A	snv	5.2E-04	1.5E-04	2
rs104894223	FZD4 ; PRSS23	0.925	0.080	11	86951990	missense variant	T/C	snv	5.1E-04	5.2E-04	2
rs1320065036	LRP5	0.925	0.160	11	68386342	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs80358287	PRSS23 ; FZD4	0.925	0.080	11	86952215	missense variant	A/G	snv			2
rs139401671	FZD4-DT ; FZD4	1.000	0.080	11	86954968	missense variant	C/G	snv	2.9E-04	2.9E-04	1
rs80358281	FZD4 ; FZD4-DT	1.000	0.080	11	86954979	missense variant	C/T	snv		7.0E-06	1
rs80358298	FZD4 ; PRSS23	1.000	0.080	11	86951293	missense variant	C/T	snv			1
rs80358300	FZD4 ; PRSS23	1.000	0.080	11	86951266	missense variant	G/A;C	snv	1.6E-05		1
rs1332274863	LRP5	1.000	0.080	11	68386441	missense variant	G/A	snv	4.0E-06		1
rs201030241	LRP5	1.000	0.080	11	68446497	missense variant	A/G	snv	3.7E-04	5.6E-05	1
rs989864153	LRP5	1.000	0.080	11	68406592	missense variant	C/A;T	snv	4.0E-06		1
rs1064794064	PRSS23 ; FZD4	1.000	0.080	11	86952145	missense variant	C/T	snv			1
rs80358285	PRSS23 ; FZD4	1.000	0.080	11	86952442	missense variant	A/G	snv			1
rs80358286	PRSS23 ; FZD4	1.000	0.080	11	86952287	missense variant	T/C	snv			1
rs80358288	PRSS23 ; FZD4	1.000	0.080	11	86952146	missense variant	A/G	snv			1
rs80358292	PRSS23 ; FZD4	1.000	0.080	11	86951751	missense variant	C/G	snv			1
rs80358293	PRSS23 ; FZD4	1.000	0.080	11	86951732	missense variant	T/C	snv	4.0E-06		1