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	AF GENOME	Num. diseases
rs6590811	ARHGAP42			11	100708153	intron variant	C/T	snv		0.53	4
rs6590812	ARHGAP42			11	100711497	intron variant	G/A	snv		0.55	1
rs633185	ARHGAP42	0.925	0.080	11	100722807	intron variant	G/A;C	snv			10
rs6590816	ARHGAP42			11	100730902	intron variant	G/A	snv		0.40	4
rs604723	ARHGAP42	1.000	0.040	11	100739815	intron variant	T/C	snv		0.78	9
rs7801190	SLC12A9	1.000	0.040	7	100860471	non coding transcript exon variant	C/G	snv		9.9E-02	2
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs104893831	VHL	0.925	0.040	3	10146549	missense variant	G/A;C;T	snv	2.0E-05		4
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs10860812	DRAM1			12	101894592	intron variant	G/A	snv		0.59	1
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs6219	HELLPAR ; LINC02456 ; IGF1	1.000	0.080	12	102396414	3 prime UTR variant	C/T	snv		8.9E-02	2
rs7136446	IGF1 ; LINC02456	0.882	0.160	12	102444737	intron variant	C/T	snv		0.66	8
rs35767	IGF1 ; LOC105369944	0.763	0.360	12	102481791	upstream gene variant	A/C;G;T	snv			13
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs176185	WBP1L			10	102796297	intron variant	G/C	snv		0.82	1
rs281432	ICAM1	0.851	0.280	19	10279982	intron variant	C/G	snv		0.52	12
rs104894145	CYP17A1-AS1 ; CYP17A1 ; WBP1L	0.925	0.240	10	102830946	missense variant	G/A	snv			3
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs4919687	CYP17A1	0.742	0.160	10	102835491	non coding transcript exon variant	G/A	snv		0.25	14
rs138009835	CYP17A1 ; LOC107984264			10	102839238	intron variant	G/A;T	snv			1
rs13175330	PAM			5	102840757	intron variant	A/G	snv		7.8E-02	2
rs679620	MMP3	0.716	0.360	11	102842889	missense variant	T/C	snv	0.58	0.57	17