DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein cholesterol measurement, C0202117

Disease: Myocardial Infarction

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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
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
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs579459		0.752	0.320	9	133278724	upstream gene variant	C/T	snv		0.81	28
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv		0.31	26
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs562338		0.807	0.160	2	21065449	intergenic variant	A/G	snv		0.69	21
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	19
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv			16
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs1042034	APOB	0.851	0.240	2	21002409	missense variant	C/T	snv	0.70	0.78	15
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs2954029		0.807	0.160	8	125478730	intron variant	A/T	snv		0.42	14
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv		0.23	13
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	12
rs1367117	APOB	1.000	0.080	2	21041028	missense variant	G/A	snv	0.26	0.24	8