DisGeNET - a database of gene-disease associations

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
rs12286037	ZPR1	1.000	0.040	11	116781491	intron variant	C/T	snv		0.11	6
rs17240378	LCAT			16	67942790	intron variant	G/C;T	snv	4.0E-06		6
rs1800588	ALDH1A2 ; LIPC	0.790	0.200	15	58431476	intron variant	C/G;T	snv	0.30		6
rs1874148	VCL			10	74114657	intron variant	A/G	snv		1.8E-02	6
rs2980869				8	125476008	intron variant	C/T	snv		0.48	6
rs2980875				8	125469505	intron variant	A/C;G;T	snv			6
rs2980880				8	125468730	intron variant	G/A	snv		0.69	6
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs4970834	CELSR2	0.925	0.160	1	109272258	intron variant	C/T	snv	0.17	0.21	6
rs519113	NECTIN2	1.000	0.080	19	44873027	intron variant	C/G;T	snv			6
rs6982636				8	125467073	intron variant	G/A	snv		0.43	6
rs7203984	CETP			16	56965346	intron variant	A/C	snv		0.31	6
rs737410	ARRB1			11	75315038	intron variant	A/G	snv		4.3E-02	6
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			6
rs8138057	PDXP			22	37665537	intron variant	G/A	snv	3.0E-03	1.3E-02	6
rs9341023	ESR1			6	152062578	intron variant	C/T	snv			6
rs9939224	CETP	1.000	0.040	16	56968820	intron variant	T/G	snv		0.75	6
rs11076175	CETP			16	56972466	intron variant	A/G	snv		0.20	5
rs11508026	CETP			16	56965416	intron variant	C/T	snv		0.32	5
rs11613352	R3HDM2	0.827	0.160	12	57398797	intron variant	C/T	snv		0.19	5
rs11828157	MMP13			11	102947395	intron variant	G/A	snv		4.7E-02	5
rs11921179	TRH			3	129976195	intron variant	G/A	snv		0.96	5
rs12679834	LPL			8	19962922	intron variant	T/C	snv		9.4E-02	5
rs1321655	ATP1A2			1	160124668	intron variant	A/G;T	snv			5
rs13389219	COBLL1	1.000	0.080	2	164672366	intron variant	C/T	snv		0.47	5