DisGeNET - a database of gene-disease associations

List of associated variants

Eclampsia, C0013537

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs7576192		1.000	0.040	2	120360455	intergenic variant	A/G	snv		0.68	2
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs7020782	PAPPA	1.000	0.040	9	116344602	missense variant	C/A	snv	0.68	0.59	1
rs770016471	ACE	1.000	0.040	17	63497260	missense variant	C/G	snv		1.4E-05	1
rs2059806	INSR	0.807	0.240	19	7166365	synonymous variant	C/G;T	snv	4.0E-06; 0.26		7
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs2890565	UTS2	0.732	0.440	1	7849677	missense variant	C/T	snv	8.7E-02	5.6E-02	15
rs779370907	ISYNA1	1.000	0.040	19	18436405	synonymous variant	C/T	snv	6.0E-05	1.4E-05	1
rs780972489	ISYNA1	1.000	0.040	19	18436831	synonymous variant	C/T	snv	8.9E-06	7.0E-06	1
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14