DisGeNET - a database of gene-disease associations

List of shared variants

Serum total cholesterol measurement, C1445957

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
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
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
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
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
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
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21
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
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs2464196	HNF1A	0.742	0.320	12	120997624	missense variant	G/A	snv	0.34	0.27	17
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	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