DisGeNET - a database of gene-disease associations

List of associated variants

Large-artery atherosclerosis (embolus/thrombosis), C4699512

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs579459		0.752	0.320	9	133278724	upstream gene variant	C/T	snv		0.81	28
rs651007		0.851	0.160	9	133278431	upstream gene variant	T/A;C	snv			22
rs767649	MIR155HG ; MIR155	0.695	0.480	21	25572410	intron variant	T/A	snv		7.5E-02	18
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv			13
rs3102735	COLEC10 ; TNFRSF11B	0.752	0.400	8	118952831	upstream gene variant	T/C	snv		0.17	12
rs12218	SAA1	0.763	0.280	11	18269774	synonymous variant	T/C	snv	0.42	0.36	11
rs2241767	ADIPOQ-AS1 ; ADIPOQ	0.763	0.440	3	186853407	intron variant	A/G	snv		0.10	10
rs3774261	ADIPOQ ; ADIPOQ-AS1	0.776	0.320	3	186853770	splice region variant	A/G	snv		0.55	10
rs6050	FGA	0.827	0.120	4	154586438	missense variant	T/A;C	snv	0.29		10
rs4612666	NLRP3	0.763	0.440	1	247435768	intron variant	T/C	snv		0.65	10
rs1800790	FGB	0.851	0.200	4	154562556	upstream gene variant	G/A	snv		0.15	9
rs748500299	PTGS2	0.790	0.200	1	186675960	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		8
rs11833579		0.827	0.200	12	666033	upstream gene variant	G/A	snv		0.25	6
rs1234313	TNFSF4	0.807	0.400	1	173197108	intron variant	A/G	snv		0.72	6
rs1492099	AGTR1	0.882	0.120	3	148719716	intron variant	T/A;C	snv		0.89	5
rs275653	AGTR1	0.882	0.120	3	148697758	upstream gene variant	A/G	snv		0.20	5
rs5070	APOA1 ; APOA1-AS	0.882	0.160	11	116837304	intron variant	A/G	snv	0.56	0.60	5
rs12425791		0.882	0.120	12	674318	downstream gene variant	G/A;C	snv			4
rs660599		1.000		11	102859026	downstream gene variant	G/A	snv		0.23	3