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
rs1000879	VIL1			2	218439407	intron variant	G/A	snv		4.1E-02	3
rs10120653	RXRA			9	134415237	intron variant	G/T	snv		1.2E-02	3
rs1031045	LPL			8	19943601	intron variant	G/A	snv		0.12	3
rs1059507	LPL	1.000	0.080	8	19966452	3 prime UTR variant	C/T	snv		0.15	3
rs11216162	SIK3			11	116857561	non coding transcript exon variant	G/A	snv		0.17	3
rs11570892	LPL			8	19966106	3 prime UTR variant	A/G;T	snv			3
rs11824953	MMP13			11	102949239	intron variant	C/G	snv		2.7E-02	3
rs13326165	STAB1			3	52498102	intron variant	A/G;T	snv			3
rs13702	LPL	0.925	0.160	8	19966981	3 prime UTR variant	T/A;C	snv			3
rs1470186	LPL			8	19938278	intron variant	T/C	snv		6.6E-02	3
rs17091742	LPL			8	19938619	intron variant	C/T	snv		6.8E-02	3
rs17237820	AGTR2			X	116174483	3 prime UTR variant	A/T	snv		5.7E-03	3
rs1800590	LPL			8	19939160	intron variant	T/G	snv		0.13	3
rs2000571				11	116714817	regulatory region variant	A/G	snv		0.73	3
rs2075847	WTAPP1 ; MMP1			11	102799093	intron variant	A/C;G	snv			3
rs2243083	F2RL1			5	76833478	missense variant	A/G;T	snv	2.1E-04	2.6E-04	3
rs2296065	GALNT2			1	230166030	intron variant	G/A;C	snv			3
rs247615				16	56950851	regulatory region variant	A/G	snv		0.23	3
rs253	LPL	1.000	0.040	8	19953906	intron variant	C/T	snv		0.53	3
rs255	LPL			8	19954390	intron variant	T/C	snv	0.17	0.18	3
rs256	LPL			8	19954456	intron variant	C/T	snv		0.12	3
rs258	LPL			8	19954741	intron variant	G/A;C;T	snv			3
rs28445964	LPL			8	19947085	intron variant	A/G	snv		7.0E-02	3
rs285	LPL	1.000	0.080	8	19957678	intron variant	C/T	snv		0.59	3
rs28575919	LPL			8	19945458	intron variant	C/G	snv		7.7E-02	3