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
rs2071410	FURIN	0.882	0.160	15	90877710	intron variant	C/A;G;T	snv			7
rs17514846	FURIN	0.882	0.120	15	90873320	intron variant	C/A;G	snv			7
rs11105378	ATP2B1			12	89696964	intron variant	C/T	snv		0.15	1
rs7136259	ATP2B1	1.000	0.040	12	89687411	intron variant	T/A;C;G	snv			2
rs11105368	ATP2B1			12	89680664	intron variant	G/A;C	snv			1
rs11105364	ATP2B1			12	89675499	intron variant	T/G	snv		0.15	4
rs17249754	ATP2B1	0.882	0.120	12	89666809	intron variant	G/A	snv		0.15	12
rs12579302	ATP2B1	0.851	0.120	12	89656726	intron variant	A/G	snv		0.15	19
rs1126464	DPEP1	1.000	0.040	16	89637957	missense variant	G/A;C	snv	1.3E-05; 0.26		4
rs7297206	ATP2B1			12	89625452	intron variant	C/A;T	snv			1
rs2070759	ATP2B1			12	89623959	intron variant	G/T	snv		0.49	1
rs2681492	ATP2B1	0.925	0.040	12	89619312	intron variant	T/C;G	snv			10
rs2681472	ATP2B1	0.882	0.080	12	89615182	intron variant	A/G	snv		0.14	9
rs1401982	ATP2B1			12	89595822	intron variant	G/A	snv		0.60	4
rs11018628	NOX4	1.000	0.080	11	89473343	intron variant	T/C;G	snv			2
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs7195830	CYBA	0.851	0.080	16	88643304	3 prime UTR variant	A/G	snv	0.62	0.69	6
rs2576178	RNLS ; LIPJ	0.790	0.160	10	88583641	5 prime UTR variant	A/G	snv		0.29	9
rs2296545	LIPJ ; RNLS	0.851	0.160	10	88583080	missense variant	C/G;T	snv	0.46		8
rs10887800	LOC101929727 ; RNLS	0.790	0.280	10	88316086	intron variant	A/G;T	snv			11
rs1801273	FABP1	0.925	0.200	2	88126256	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs141498002	PMM2	0.827	0.280	16	8811099	stop gained	G/A;T	snv	1.1E-04; 5.2E-06		8
rs1057518797	PKD2			4	88008090	frameshift variant	CCCGGGCA/TAGGACG	delins			3
rs3789243	ABCB1	0.776	0.120	7	87591570	intron variant	A/G	snv		0.50	14