DisGeNET - a database of gene-disease associations

List of associated variants

Arteriosclerosis, C0003850

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
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	17
rs1010	VAMP8	0.807	0.120	2	85581859	3 prime UTR variant	T/C;G	snv			7
rs5351	EDNRB-AS1 ; EDNRB	0.807	0.240	13	77901178	synonymous variant	T/C;G	snv	0.57		7
rs4252120	PLG	0.827	0.080	6	160722576	intron variant	T/C;G	snv	0.21		5
rs877087	RYR3	0.882	0.080	15	33582074	intron variant	T/C;G	snv			4
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs5918	ITGB3	0.683	0.480	17	47283364	missense variant	T/C	snv	0.12	0.13	26
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs16147	LOC107986777 ; NPY	0.695	0.400	7	24283791	upstream gene variant	T/C	snv		0.48	18
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	18
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs773641005	GOT2	0.742	0.240	16	58723829	missense variant	T/C	snv			14
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	13
rs1126478	LTF	0.763	0.240	3	46459723	missense variant	T/C	snv	0.41	0.51	11
rs185847354	ADIPOQ ; ADIPOQ-AS1	0.763	0.160	3	186854460	missense variant	T/C	snv	3.1E-04	7.0E-05	11
rs563558831	CYP2B6	0.776	0.320	19	40991226	upstream gene variant	T/C	snv		7.0E-06	11