DisGeNET - a database of gene-disease associations

List of associated variants

Blood Pressure, C0005823

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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1173756	NPR3			5	32789746	3 prime UTR variant	T/C	snv	0.56	0.60	1
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs7733088	HTR4 ; LOC107986462	1.000	0.040	5	148476770	intron variant	G/A;C	snv	0.44; 4.1E-06		5
rs661348	LSP1			11	1884062	intron variant	T/C	snv	0.43	0.37	5
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1476413	MTHFR	0.790	0.360	1	11792243	intron variant	C/G;T	snv	4.0E-06; 0.26	0.23	10
rs3818762	MTHFR			1	11790946	intron variant	G/C	snv	0.26; 1.7E-03	0.23	1
rs3774372	ULK4	1.000	0.160	3	41835922	missense variant	T/C	snv	0.17	0.18	4
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs3751664	CACNA1H			16	1204369	missense variant	C/A;T	snv	9.4E-06; 8.2E-02		1
rs17511601	OR5W2			11	55913899	missense variant	T/C;G	snv	1.6E-05; 6.1E-02		1
rs17527788	OR7E5P			11	55979537	non coding transcript exon variant	C/G;T	snv	6.9E-06; 5.9E-02		1
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs17581532	OR4C15			11	55554347	missense variant	T/A	snv	4.5E-02	4.1E-02	1
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			16
rs17249754	ATP2B1	0.882	0.120	12	89666809	intron variant	G/A	snv		0.15	12
rs3918226	NOS3	0.925	0.080	7	150993088	intron variant	C/T	snv		5.7E-02	12
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			11
rs11014166	CACNB2	0.882	0.040	10	18419869	intron variant	A/T	snv		0.27	10