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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs4961	ADD1	0.683	0.400	4	2904980	missense variant	G/A;T	snv	1.2E-05; 0.20		27
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
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
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
rs2016347	IGF1R	0.790	0.160	15	98960571	3 prime UTR variant	G/A;T	snv			9
rs2070584	TIMP1 ; MIR4769 ; SYN1	0.790	0.200	X	47587120	intron variant	T/G	snv		0.44	8