DisGeNET - a database of gene-disease associations

List of associated variants

Hypertensive disease, C0020538

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
rs3836790	SLC6A3	0.882	0.080	5	1411740	intron variant	-/ACATACACACTCAGACACACATACCATGCA	ins			5
rs28363170	SLC6A3	0.827	0.120	5	1393745	3 prime UTR variant	-/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC	delins		8.1E-06	7
rs146052672	HMGA1	0.851	0.160	6	34242693	intron variant	-/C	delins			5
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins			25
rs36217263	KL	1.000	0.040	13	33015697	upstream gene variant	A/-	del		0.21	4
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs3745297	HRC	0.790	0.120	19	49154952	missense variant	A/C	snv	0.41	0.38	10
rs316019	SLC22A2	0.790	0.360	6	160249250	missense variant	A/C	snv	0.90	0.89	8
rs121912594	CPS1	0.882	0.160	2	210675762	missense variant	A/C	snv			7
rs17030613	CAPZA1			1	112648185	intron variant	A/C	snv		0.19	7
rs729302		0.827	0.160	7	128928906	intergenic variant	A/C	snv		0.28	6
rs12500426	PDLIM5	0.851	0.240	4	94593458	intron variant	A/C	snv		0.54	5
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
rs35036378	ESR2	0.851	0.200	14	64294403	5 prime UTR variant	A/C	snv		7.0E-03	5
rs3761581	APLN	0.851	0.160	X	129655744	upstream gene variant	A/C	snv		0.11	5
rs4833103	TLR1	0.925	0.160	4	38813881	intron variant	A/C	snv		0.64	5
rs4387287	STN1			10	103918139	5 prime UTR variant	A/C	snv		0.69	4
rs7201	MMP2	0.925	0.160	16	55505702	3 prime UTR variant	A/C	snv		0.37	4
rs8098380	YES1			18	721563	downstream gene variant	A/C	snv		0.33	4
rs113296370	PLEKHH2	1.000	0.040	2	43636315	upstream gene variant	A/C	snv		0.17	3
rs1372503923	ITGA2	0.925	0.160	5	53048731	missense variant	A/C	snv			3
rs1050606	ANXA5	1.000	0.080	4	121696891	5 prime UTR variant	A/C	snv		0.50	2
rs4686340	SRGAP3			3	9303534	intron variant	A/C	snv		0.80	2