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
rs3957357	GSTA1	0.807	0.280	6	52803889	upstream gene variant	A/G	snv		0.63	7
rs2779249	NOS2	0.851	0.200	17	27801555	intron variant	C/A	snv		0.33	7
rs846910	HSD11B1 ; HSD11B1-AS1	0.882	0.160	1	209701909	intron variant	A/G	snv		0.95	6
rs2881766	ESR1	0.882	0.120	6	151797984	intron variant	T/G	snv		0.35	5
rs41511344	NR3C2	0.882	0.040	4	148152550	stop gained	G/A;T	snv			5
rs2235543	HSD11B1-AS1 ; HSD11B1	0.925	0.080	1	209687323	intron variant	T/A;C	snv			4
rs1319501	NAMPT	0.882	0.120	7	106285307	intron variant	C/A;T	snv		0.76	4
rs370402227	NOS3	0.925	0.120	7	150996443	missense variant	G/A;C	snv	1.1E-05		4
rs3801266	NAMPT	0.925	0.080	7	106283804	intron variant	T/C	snv		0.26	3
rs1643821	ESR1			6	151862416	intron variant	G/A	snv		0.46	2
rs142724505	EXOSC4	1.000	0.080	8	144080528	missense variant	G/A	snv	1.8E-03	1.7E-03	2
rs757574299	LEPR	1.000	0.080	1	65570511	missense variant	C/G	snv	1.6E-05	1.4E-05	2
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
rs12710567	AGTR2			X	116170599	upstream gene variant	T/C	snv		3.2E-02	1
rs988328	ESR1			6	151920015	intron variant	T/C	snv		0.15	1
rs10458894	STIM1			11	3892042	intron variant	T/A;C	snv			1
rs7945554	STIM1			11	3857748	intron variant	G/A	snv		0.37	1
rs11466414	TGFB3 ; IFT43			14	75981507	non coding transcript exon variant	G/A	snv		4.7E-02	1