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
rs289714	CETP			16	56973539	intron variant	G/A	snv	0.76; 4.0E-06	0.70	5
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
rs289718	CETP			16	56976020	intron variant	C/T	snv		0.64	3
rs289719	CETP			16	56976029	intron variant	T/C	snv		0.66	3
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
rs4783961	CETP	0.851	0.320	16	56960982	upstream gene variant	G/A	snv	0.48	0.47	3
rs4783962	CETP			16	56961126	upstream gene variant	T/C	snv		0.80	2
rs4784744	CETP			16	56977273	non coding transcript exon variant	G/A	snv		0.30	3
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
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		3
rs5883	CETP	1.000	0.040	16	56973441	synonymous variant	C/T	snv	5.1E-02	6.6E-02	2
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	4
rs708273	CETP			16	56966037	intron variant	A/G	snv		0.76	2
rs711752	CETP	1.000	0.040	16	56962299	splice region variant	G/A;C	snv			6
rs7203984	CETP			16	56965346	intron variant	A/C	snv		0.31	6
rs7205804	CETP			16	56970977	intron variant	G/A	snv		0.34	4
rs736274	CETP			16	56975857	intron variant	T/A	snv		8.7E-02	2
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			6