DisGeNET - a database of gene-disease associations

List of associated variants

Essential Hypertension, C0085580

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
rs10046	MIR4713HG ; CYP19A1	0.708	0.400	15	51210789	3 prime UTR variant	G/A	snv	0.45	0.43	18
rs1012841819	ADRA2B	0.882	0.160	2	96115728	missense variant	G/A	snv	4.0E-06		4
rs10199956	RAMP1	1.000	0.040	2	237907946	intron variant	T/A;G	snv			1
rs1021737	CTH	0.925	0.120	1	70439117	missense variant	G/T	snv	0.28	0.24	2
rs1024323	GRK4	0.882	0.160	4	3004316	missense variant	C/A;G;T	snv	0.36		4
rs1037733674	GCG ; LOC101929532	0.882	0.120	2	162147429	missense variant	T/C	snv		1.4E-05	5
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1043210477	GPX1	0.701	0.520	3	49358250	missense variant	G/A	snv			19
rs1047047	GUCA2B	1.000	0.040	1	42153468	synonymous variant	A/C;G;T	snv	6.4E-05; 0.21; 4.0E-06		1
rs1047303	HSD3B1	0.851	0.120	1	119514623	missense variant	C/A	snv	0.75		4
rs1048829	BMPR2	0.925	0.080	2	202565733	3 prime UTR variant	T/A;G	snv			4
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs10501367	APLNR	1.000	0.040	11	57238113	upstream gene variant	T/C	snv		0.73	2
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs1065297	CXCL12	0.925	0.040	10	44370528	3 prime UTR variant	A/G	snv		5.4E-02	3
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs10803414	CLCNKB	1.000	0.040	1	16054087	intron variant	C/T	snv		0.40	2
rs1093538	FAM189A1	1.000	0.040	15	29326124	intron variant	C/T	snv		0.12	2
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs11169571	ATF1	0.851	0.200	12	50819982	3 prime UTR variant	T/C	snv		0.36	4
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	10
rs11221497	KCNJ5	0.882	0.120	11	128890715	upstream gene variant	G/C	snv		0.19	3
rs11231825	SLC22A12	0.827	0.240	11	64592802	synonymous variant	T/C	snv	0.57	0.51	5