DisGeNET - a database of gene-disease associations

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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
rs9939224	CETP	1.000	0.040	16	56968820	intron variant	T/G	snv		0.75	6
rs12708980	CETP			16	56978467	intron variant	T/G	snv		0.36	2
rs9923854	CETP			16	56983090	intron variant	T/G	snv		0.10	2
rs12720918	CETP			16	56960300	upstream gene variant	T/C	snv		0.26	3
rs289719	CETP			16	56976029	intron variant	T/C	snv		0.66	3
rs11076174	CETP			16	56969234	intron variant	T/C	snv		0.10	2
rs4783962	CETP			16	56961126	upstream gene variant	T/C	snv		0.80	2
rs9930761	CETP			16	56973280	intron variant	T/C	snv	5.9E-02	7.3E-02	2
rs11076176	CETP			16	56973534	intron variant	T/A;G	snv	2.4E-05; 0.22		4
rs289716	CETP			16	56975464	intron variant	T/A	snv		0.63	2
rs736274	CETP			16	56975857	intron variant	T/A	snv		8.7E-02	2
rs289744	CETP			16	56984190	downstream gene variant	G/T	snv		0.61	2
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	2
rs289717	CETP			16	56975476	intron variant	G/A;T	snv			2
rs289743	CETP			16	56983884	downstream gene variant	G/A;C;T	snv			2
rs711752	CETP	1.000	0.040	16	56962299	splice region variant	G/A;C	snv			6
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		3
rs12720873	CETP			16	56972160	intron variant	G/A;C	snv			2
rs820299	CETP			16	56966372	intron variant	G/A;C	snv			2
rs1864163	CETP	0.882	0.120	16	56963321	intron variant	G/A	snv		0.26	8
rs289714	CETP			16	56973539	intron variant	G/A	snv	0.76; 4.0E-06	0.70	5
rs12720922	CETP			16	56966973	intron variant	G/A	snv		0.23	4
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	4
rs7205804	CETP			16	56970977	intron variant	G/A	snv		0.34	4
rs4783961	CETP	0.851	0.320	16	56960982	upstream gene variant	G/A	snv	0.48	0.47	3