DisGeNET - a database of gene-disease associations

List of shared variants

High density lipoprotein measurement, C0392885

Disease: Coronary Arteriosclerosis

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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	43
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		26
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	19
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	19
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs116843064	ANGPTL4	0.776	0.160	19	8364439	missense variant	G/A	snv	1.3E-02	1.5E-02	16
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	16
rs17321515		0.776	0.200	8	125474167	intron variant	A/G	snv		0.49	16
rs1800588	ALDH1A2 ; LIPC	0.790	0.200	15	58431476	intron variant	C/G;T	snv	0.30		16
rs2943634		0.763	0.200	2	226203364	intergenic variant	A/C;G	snv			15
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	13
rs9989419		0.882	0.120	16	56951227	regulatory region variant	A/G	snv		0.55	11
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	10
rs2001844		0.882	0.040	8	125466503	upstream gene variant	A/G	snv		0.43	9