DisGeNET - a database of gene-disease associations

List of associated variants

Hypertensive disease, C0020538

Source: BEFREE ×

Results per page

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	169
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	131
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	92
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	69
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs4606	RGS2	0.752	0.120	1	192812042	3 prime UTR variant	C/G;T	snv			16
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			15
rs2890565	UTS2	0.732	0.440	1	7849677	missense variant	C/T	snv	8.7E-02	5.6E-02	15
rs3811463	LIN28A	0.752	0.400	1	26427451	3 prime UTR variant	T/A;C	snv			14
rs5355	C1orf112 ; SELE	0.742	0.240	1	169726729	missense variant	G/A	snv	4.5E-02	3.3E-02	14
rs1177506410	AGT	0.776	0.240	1	230706148	missense variant	G/C	snv	4.0E-06	7.0E-06	12
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs5065	NPPA ; CLCN6 ; NPPA-AS1	0.763	0.240	1	11846011	stop lost	A/G	snv	0.14	0.21	12
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv			11
rs17465637	MIA3	0.790	0.200	1	222650187	intron variant	A/C;G;T	snv	0.64; 6.4E-06		11
rs5063	CLCN6 ; NPPA-AS1 ; NPPA	0.763	0.280	1	11847591	missense variant	C/T	snv	5.6E-02	5.3E-02	11
rs5068	NPPA ; NPPA-AS1 ; CLCN6	0.776	0.160	1	11845917	3 prime UTR variant	A/G;T	snv			11