DisGeNET - a database of gene-disease associations

List of shared variants

Coronary heart disease, C0010068

Disease: Systolic blood pressure measurement

Source: GWASDB ×

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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		24
rs12413409	CNNM2	0.790	0.200	10	102959339	intron variant	G/A	snv		9.0E-02	6
rs11014166	CACNB2	0.882	0.040	10	18419869	intron variant	A/T	snv		0.27	5
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			4
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	3
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	3
rs12946454	ACBD4 ; PLCD3	0.925	0.040	17	45130754	intron variant	A/T	snv		0.21	3
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	3
rs2681492	ATP2B1	0.925	0.040	12	89619312	intron variant	T/C;G	snv			3
rs381815	PLEKHA7	1.000	0.040	11	16880721	intron variant	C/A;T	snv		0.24	3
rs448378	MECOM	1.000	0.040	3	169383111	intron variant	G/A;C	snv			3