DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein cholesterol measurement, C0202117

Disease: Coronary heart disease

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
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
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
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
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
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv		0.10	25
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
rs4803750	BCL3	0.807	0.240	19	44744370	upstream gene variant	A/G	snv		7.7E-02	22
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	22
rs651007		0.851	0.160	9	133278431	upstream gene variant	T/A;C	snv			22
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21