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
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs1177506410	AGT	0.776	0.240	1	230706148	missense variant	G/C	snv	4.0E-06	7.0E-06	12
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs1341667	STOX1	0.925	0.040	10	68882104	missense variant	T/C	snv	0.62	0.57	4
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1800595	F5	0.925	0.080	1	169541110	missense variant	T/C;G	snv	5.7E-02		2
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2059806	INSR	0.807	0.240	19	7166365	synonymous variant	C/G;T	snv	4.0E-06; 0.26		7
rs2198532	DCDC2C	1.000	0.040	2	3827777	intron variant	T/C	snv		0.79	1
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs2507800	ANGPT1	1.000	0.040	8	107250441	3 prime UTR variant	T/A	snv		0.36	2
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs2890565	UTS2	0.732	0.440	1	7849677	missense variant	C/T	snv	8.7E-02	5.6E-02	15
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs3756261	EGF	0.925	0.160	4	109911150	upstream gene variant	T/C	snv		9.9E-02	2