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
rs7203984	CETP			16	56965346	intron variant	A/C	snv		0.31	6
rs4784745	CETP			16	56980963	intron variant	A/C;G	snv			2
rs289715	CETP			16	56974596	intron variant	A/C;T	snv			2
rs11076175	CETP			16	56972466	intron variant	A/G	snv		0.20	5
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	3
rs708273	CETP			16	56966037	intron variant	A/G	snv		0.76	2
rs12720889	CETP			16	56978651	intron variant	A/T	snv		0.27	2
rs4587963	CETP			16	56963457	intron variant	A/T	snv		0.79	2
rs1532624	CETP	0.851	0.160	16	56971567	intron variant	C/A	snv		0.34	7
rs12597002	CETP	1.000		16	56968492	intron variant	C/A	snv		0.25	2
rs1800776	CETP			16	56961322	upstream gene variant	C/A	snv	5.2E-02	5.5E-02	2
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		7
rs12447839	CETP			16	56960023	upstream gene variant	C/A;G;T	snv			2
rs289742	CETP			16	56983850	downstream gene variant	C/G	snv		0.80	2
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			6
rs17231506	CETP	0.851	0.040	16	56960616	upstream gene variant	C/G;T	snv	0.28		5
rs11508026	CETP			16	56965416	intron variant	C/T	snv		0.32	5
rs1532625	CETP			16	56971389	splice region variant	C/T	snv	0.40	0.34	4
rs289718	CETP			16	56976020	intron variant	C/T	snv		0.64	3
rs12447924	CETP	1.000		16	56960280	upstream gene variant	C/T	snv		0.76	2
rs5883	CETP	1.000	0.040	16	56973441	synonymous variant	C/T	snv	5.1E-02	6.6E-02	2
rs891144	CETP			16	56978024	non coding transcript exon variant	C/T	snv		7.3E-02	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