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
rs12679834	LPL	8	19962922	intron variant	T/C	snv		9.4E-02	5
rs325	LPL	8	19961817	intron variant	T/C	snv		9.0E-02	4
rs327	LPL	8	19962025	intron variant	T/G	snv		0.31	4
rs1031045	LPL	8	19943601	intron variant	G/A	snv		0.12	3
rs11570892	LPL	8	19966106	3 prime UTR variant	A/G;T	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
rs1800590	LPL	8	19939160	intron variant	T/G	snv		0.13	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
rs28575919	LPL	8	19945458	intron variant	C/G	snv		7.7E-02	3
rs28615996	LPL	8	19945200	intron variant	T/C	snv		9.1E-02	3
rs28645722	LPL	8	19945383	intron variant	G/A;T	snv			3
rs316	LPL	8	19960925	missense variant	C/A;T	snv	0.13; 4.0E-06		3
rs3200218	LPL	8	19966560	3 prime UTR variant	A/G;T	snv			3
rs326	LPL	8	19961928	intron variant	A/G	snv		0.37	3
rs3289	LPL	8	19965681	3 prime UTR variant	T/C	snv		4.0E-02	3
rs331	LPL	8	19962894	intron variant	G/A	snv		0.30	3
rs3779788	LPL	8	19945582	intron variant	C/T	snv		0.11	3
rs3916027	LPL	8	19967357	downstream gene variant	G/A	snv		0.31	3
rs4921683	LPL	8	19967557	downstream gene variant	T/A	snv		0.14	3
rs4922115	LPL	8	19965319	3 prime UTR variant	G/A	snv	0.15	0.14	3
rs6999612	LPL	8	19945573	intron variant	T/C	snv		7.8E-02	3