DisGeNET - a database of gene-disease associations

List of associated variants

Premature coronary artery atherosclerosis, C1867743

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs5888	SCARB1	0.752	0.200	12	124800202	synonymous variant	A/G;T	snv	0.59; 4.0E-06		11
rs35385902	ADH1C ; ADH1B	0.807	0.240	4	99347122	missense variant	C/A;T	snv	2.0E-05; 1.1E-03		9
rs777659543	UCP3	0.882	0.120	11	74006231	missense variant	G/A	snv	4.0E-06		6
rs121918394	APOE	0.882	0.080	19	44908786	missense variant	A/C;G	snv	6.5E-06		5
rs1800849	UCP3	0.851	0.160	11	74009120	upstream gene variant	G/A;T	snv			5
rs2857656	CCL2	0.851	0.120	17	34254988	upstream gene variant	G/A;C	snv			5
rs3869109		0.851	0.160	6	31216419	intergenic variant	A/G;T	snv			5
rs137854498	ABCA1	1.000	0.120	9	104798504	missense variant	G/A;T	snv	8.0E-06; 8.0E-06		3
rs761646500	THBS2 ; LOC101929523	0.925	0.080	6	169237763	missense variant	C/G	snv	4.0E-06		3
rs730880284	SELP			1	169612928	splice donor variant	C/G;T	snv	2.8E-05		1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1177506410	AGT	0.776	0.240	1	230706148	missense variant	G/C	snv	4.0E-06	7.0E-06	12
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs150016118	UCP3	0.882	0.120	11	74006339	missense variant	A/G	snv	1.7E-05	6.3E-05	6
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	13
rs11171806	IL23A	0.807	0.360	12	56339747	synonymous variant	G/A	snv	4.9E-02	4.5E-02	7
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs2228262	FSIP1 ; THBS1	0.763	0.200	15	39589977	missense variant	A/G	snv	7.9E-02	8.0E-02	10
rs1866389	THBS4	0.790	0.080	5	80065442	missense variant	G/C	snv	0.17	0.17	9