DisGeNET - a database of gene-disease associations

List of shared variants

Coronary heart disease, C0010068

Disease: Hypertensive disease

Source: ALL

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
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	9
rs5065	NPPA ; CLCN6 ; NPPA-AS1	0.763	0.240	1	11846011	stop lost	A/G	snv	0.14	0.21	12
rs5063	CLCN6 ; NPPA-AS1 ; NPPA	0.763	0.280	1	11847591	missense variant	C/T	snv	5.6E-02	5.3E-02	12
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs2464196	HNF1A	0.742	0.320	12	120997624	missense variant	G/A	snv	0.34	0.27	17
rs4758685	MLXIP	1.000	0.040	12	122142295	3 prime UTR variant	G/A	snv	0.52	0.49	2
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs9349379	PHACTR1	0.732	0.200	6	12903725	intron variant	A/G	snv		0.32	19
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs1799998	CYP11B2	0.742	0.200	8	142918184	upstream gene variant	A/G;T	snv		0.38	14
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs553350297	AGTR1	0.882	0.040	3	148741588	missense variant	G/A	snv	1.2E-05	2.1E-05	4
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
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
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs2306235	PLEKHO1	0.827	0.040	1	150150942	missense variant	C/G;T	snv	1.1E-02; 1.6E-05	4.4E-03	6