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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs7203984	CETP	16	56965346	intron variant	A/C	snv		0.31	6
rs7499892	CETP	16	56972678	intron variant	C/G;T	snv			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
rs289714	CETP	16	56973539	intron variant	G/A	snv	0.76; 4.0E-06	0.70	5
rs11076176	CETP	16	56973534	intron variant	T/A;G	snv	2.4E-05; 0.22		4
rs12720922	CETP	16	56966973	intron variant	G/A	snv		0.23	4
rs1532625	CETP	16	56971389	splice region variant	C/T	snv	0.40	0.34	4
rs7205804	CETP	16	56970977	intron variant	G/A	snv		0.34	4
rs12720918	CETP	16	56960300	upstream gene variant	T/C	snv		0.26	3
rs289718	CETP	16	56976020	intron variant	C/T	snv		0.64	3
rs289719	CETP	16	56976029	intron variant	T/C	snv		0.66	3
rs4784744	CETP	16	56977273	non coding transcript exon variant	G/A	snv		0.30	3
rs11076174	CETP	16	56969234	intron variant	T/C	snv		0.10	2
rs12447839	CETP	16	56960023	upstream gene variant	C/A;G;T	snv			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
rs1800776	CETP	16	56961322	upstream gene variant	C/A	snv	5.2E-02	5.5E-02	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