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
rs12447924	CETP	1.000		16	56960280	upstream gene variant	C/T	snv		0.76	2
rs12597002	CETP	1.000		16	56968492	intron variant	C/A	snv		0.25	2
rs12708980	CETP			16	56978467	intron variant	T/G	snv		0.36	2
rs12720873	CETP			16	56972160	intron variant	G/A;C	snv			2
rs12720889	CETP			16	56978651	intron variant	A/T	snv		0.27	2
rs158477	CETP			16	56973698	intron variant	G/A	snv		0.49	2
rs158480	CETP			16	56974315	intron variant	G/A	snv		0.78	2
rs17231520	CETP	0.851	0.240	16	56961915	upstream gene variant	G/A	snv		2.1E-02	2
rs1800776	CETP			16	56961322	upstream gene variant	C/A	snv	5.2E-02	5.5E-02	2
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	2
rs1801706	CETP	1.000	0.040	16	56983750	3 prime UTR variant	G/A	snv		0.17	2
rs289715	CETP			16	56974596	intron variant	A/C;T	snv			2
rs289716	CETP			16	56975464	intron variant	T/A	snv		0.63	2
rs289717	CETP			16	56975476	intron variant	G/A;T	snv			2
rs289742	CETP			16	56983850	downstream gene variant	C/G	snv		0.80	2
rs289743	CETP			16	56983884	downstream gene variant	G/A;C;T	snv			2
rs289744	CETP			16	56984190	downstream gene variant	G/T	snv		0.61	2
rs291044	CETP			16	56977540	non coding transcript exon variant	G/A	snv		0.28	2
rs4587963	CETP			16	56963457	intron variant	A/T	snv		0.79	2
rs4783962	CETP			16	56961126	upstream gene variant	T/C	snv		0.80	2
rs4784745	CETP			16	56980963	intron variant	A/C;G	snv			2
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	2
rs5883	CETP	1.000	0.040	16	56973441	synonymous variant	C/T	snv	5.1E-02	6.6E-02	2
rs708273	CETP			16	56966037	intron variant	A/G	snv		0.76	2
rs736274	CETP			16	56975857	intron variant	T/A	snv		8.7E-02	2