DisGeNET - a database of gene-disease associations

List of associated variants

Hypertensive disease, C0020538

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	Num. diseases
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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05	237
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04	187
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		121
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04	107
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
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63	99
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv		93
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv		78
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv		67
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06	64
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv		62
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68	54
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25	53
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv		52
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06	51
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02	49
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13	48
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06	41
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06	40
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06	40