DisGeNET - a database of gene-disease associations

List of associated variants

Aneurysm of ascending aorta, C0856747

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
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs137854468	FBN1	0.851	0.160	15	48487396	missense variant	C/T	snv			6
rs2118181	FBN1	0.851	0.040	15	48623687	intron variant	T/C	snv		0.23	6
rs1036477	FBN1	0.882	0.040	15	48622729	intron variant	A/G	snv		0.24	5
rs138370967	LOC107984406 ; ROBO4	1.000	0.080	11	124897049	missense variant	C/A;T	snv	6.8E-05		2
rs150700978	LOC107984406 ; ROBO4	1.000	0.080	11	124895897	missense variant	G/A	snv	1.0E-04	8.4E-05	2
rs1565326476	LOC107984406 ; ROBO4	1.000	0.080	11	124894286	missense variant	A/T	snv			2
rs201393279	LOC107984406 ; ROBO4	1.000	0.080	11	124897142	missense variant	G/A;T	snv	2.0E-04		2
rs755569942	LOC107984406 ; ROBO4	1.000	0.080	11	124891736	frameshift variant	GTCCCGAGAGCCAG/-	delins	6.4E-05	1.4E-05	2
rs779392207	LOC107984406 ; ROBO4	1.000	0.080	11	124895852	missense variant	A/G	snv	4.0E-06		2
rs761508282	NOTCH1	1.000	0.080	9	136508288	missense variant	G/C	snv	8.1E-06	2.1E-05	2
rs1565322176	ROBO4	1.000	0.080	11	124887166	missense variant	GC/AG	mnv			2
rs764038221	ROBO4	1.000	0.080	11	124887732	splice donor variant	C/A;T	snv	8.0E-06		2
rs138111911	ROBO4 ; LOC107984406	1.000	0.080	11	124891383	missense variant	C/A;G	snv	4.7E-06; 5.2E-05		2
rs201492213	ROBO4 ; LOC107984406	1.000	0.080	11	124891545	stop gained	G/A;C	snv	8.0E-05		2
rs755747435	ROBO4 ; LOC107984406	1.000	0.080	11	124895654	missense variant	T/G	snv	1.6E-05	7.0E-06	2