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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10156121			7	142672656	downstream gene variant	T/C	snv		3.9E-02	4
rs10415849	GATAD2A		19	19394278	intron variant	C/T	snv		0.12	4
rs1041968	APOB		2	21009932	synonymous variant	G/A	snv	0.39	0.38	6
rs10500212	PBX4		19	19612406	intron variant	C/T	snv		0.10	4
rs10504062	PRKDC		8	47824663	intron variant	T/C	snv		2.1E-02	3
rs10518982	LIPC		15	58507555	intron variant	A/G	snv		2.2E-02	3
rs10789117	DOCK7 ; ANGPTL3		1	62606594	intron variant	A/C;T	snv			5
rs10986881	PBX3		9	125756807	intron variant	C/T	snv		1.8E-02	3
rs11193085	SORCS1		10	106873848	intron variant	G/A	snv		8.8E-02	3
rs11207997	DOCK7 ; ANGPTL3		1	62596235	intron variant	C/T	snv		0.39	6
rs11465759	IL23R ; C1orf141		1	67166721	intron variant	T/G	snv		2.4E-02	4
rs11466654	TLR10		4	38774508	synonymous variant	T/C;G	snv	1.1E-03; 1.8E-05		4
rs11568607	ABCC3		17	50668426	splice region variant	G/A	snv	7.4E-03	2.6E-02	4
rs11568746	TGFBR1		9	99105926	intron variant	C/G	snv		2.1E-05	6
rs11569302	CD40		20	46118465	intron variant	C/G;T	snv			4
rs11570255	EDN3	1.000	20	59300861	missense variant	G/A;T	snv	3.3E-03; 2.9E-05		7
rs11571151	PGR-AS1 ; PGR		11	101127486	missense variant	C/G;T	snv			6
rs11574728	CD36		7	80676025	intron variant	G/A	snv		7.5E-03	3
rs1167998	DOCK7		1	62465961	intron variant	C/A	snv		0.57	6
rs11828157	MMP13		11	102947395	intron variant	G/A	snv		4.7E-02	5
rs11902417			2	20976028	intergenic variant	G/A	snv		0.25	7
rs11925396			3	194391622	downstream gene variant	A/G	snv		1.9E-02	3
rs12258934	NRG3		10	82015079	intron variant	T/C	snv		5.1E-02	4
rs12610185	PBX4		19	19610913	intron variant	G/A	snv		8.6E-02	4
rs12708979	CETP		16	56978442	intron variant	C/T	snv		5.9E-03	3