DisGeNET - a database of gene-disease associations

List of shared variants

Hypercholesterolemia, C0020443

Disease: Hypertensive 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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	25
rs3825172	PSMD9	0.776	0.360	12	121902569	non coding transcript exon variant	C/G;T	snv			14
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs4580704	CLOCK	0.790	0.200	4	55460540	intron variant	G/C	snv		0.69	13
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	10
rs55951658	CYP3A4	0.827	0.200	7	99770202	missense variant	T/A;C	snv	4.1E-04	9.8E-05	7
rs619203	ROS1	0.851	0.160	6	117301021	missense variant	G/C	snv	0.20	0.19	6
rs2235543	HSD11B1-AS1 ; HSD11B1	0.925	0.080	1	209687323	intron variant	T/A;C	snv			4
rs41494349	LRP5	0.882	0.080	11	68348021	missense variant	A/G	snv	1.9E-02	8.2E-03	4
rs768925824	LDLR	0.925	0.040	19	11110693	missense variant	G/A	snv	4.0E-06		4
rs17222772	ALOX5AP	0.925	0.120	13	30737959	intron variant	A/T	snv			3
rs17231896	CETP	0.925	0.120	16	56982180	missense variant	G/A;C	snv			3
rs4393158	HSD11B1-AS1	1.000	0.040	1	209678552	intron variant	A/G;T	snv			2