DisGeNET - a database of gene-disease associations

List of associated variants

Pregnancy associated hypertension, C0852036

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs3957357	GSTA1	0.807	0.280	6	52803889	upstream gene variant	A/G	snv		0.63	7
rs846910	HSD11B1 ; HSD11B1-AS1	0.882	0.160	1	209701909	intron variant	A/G	snv		0.95	6
rs2234681	MMP9	1.000	0.040	20	46008773	upstream gene variant	ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC	delins			2
rs2779249	NOS2	0.851	0.200	17	27801555	intron variant	C/A	snv		0.33	7
rs1319501	NAMPT	0.882	0.120	7	106285307	intron variant	C/A;T	snv		0.76	4
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs757574299	LEPR	1.000	0.080	1	65570511	missense variant	C/G	snv	1.6E-05	1.4E-05	2
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs2740574	CYP3A4	0.807	0.360	7	99784473	upstream gene variant	C/T	snv		0.78	12
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs142724505	EXOSC4	1.000	0.080	8	144080528	missense variant	G/A	snv	1.8E-03	1.7E-03	2
rs1643821	ESR1			6	151862416	intron variant	G/A	snv		0.46	2
rs11466414	TGFB3 ; IFT43			14	75981507	non coding transcript exon variant	G/A	snv		4.7E-02	1
rs7945554	STIM1			11	3857748	intron variant	G/A	snv		0.37	1
rs370402227	NOS3	0.925	0.120	7	150996443	missense variant	G/A;C	snv	1.1E-05		4
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24