DisGeNET - a database of gene-disease associations

List of associated variants

Ectopia Lentis, C0013581

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
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs137854480	FBN1	0.742	0.200	15	48537629	missense variant	G/A	snv			11
rs730880099	FBN1	0.742	0.200	15	48510125	missense variant	G/A	snv			11
rs193922185	FBN1	0.752	0.200	15	48505037	missense variant	G/A	snv			10
rs193922219	FBN1	0.763	0.280	15	48446701	splice region variant	C/A;T	snv			9
rs1555395001	FBN1	0.807	0.200	15	48434600	missense variant	A/G	snv			8
rs1566913974	FBN1	0.807	0.200	15	48505029	missense variant	A/C	snv			8
rs1057518883	FBN1	0.851	0.240	15	48415571	missense variant	A/C	snv			7
rs137854467	FBN1	0.790	0.280	15	48600217	missense variant	G/A	snv			7
rs121918355	LTBP2	0.807	0.280	14	74555629	stop gained	G/A;T	snv	2.1E-05; 4.2E-06		7
rs137854464	FBN1	0.851	0.200	15	48425483	missense variant	C/T	snv		7.0E-06	5
rs199473693	ADAMTSL4-AS2 ; ADAMTSL4	0.882	0.160	1	150553750	frameshift variant	AGGCCTCTGGCACAGAGCCC/-	delins			3
rs1057518973	FBN1	0.925	0.120	15	48596343	missense variant	A/C;G	snv			3
rs118203985	ADAMTSL4 ; ADAMTSL4-AS2	0.925	0.080	1	150556974	stop gained	T/A;G	snv	4.0E-06; 2.0E-05		2
rs137854479	FBN1	0.925	0.200	15	48497298	missense variant	T/C	snv			2
rs778345588	ADAMTSL4 ; ADAMTSL4-AS2	1.000	0.080	1	150558021	stop gained	C/T	snv	4.1E-06		1
rs1204846773	RET	1.000	0.080	10	43113581	missense variant	G/T	snv			1