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
rs1129555	GPAM		10	112150963	3 prime UTR variant	A/G	snv		0.71	5
rs114165349	LOC101928728 ; ARID1A		1	26695422	intron variant	G/C	snv		1.7E-02	5
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
rs115485095	CYP21A2 ; EHMT2		6	31888293	intron variant	G/A	snv			3
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
rs115845232	LOC112267902 ; HLA-B		6	31304484	intron variant	C/T	snv			3
rs116477171	CYP21A2 ; C2		6	31918153	intron variant	C/G;T	snv			3
rs11652146	ZNF652		17	49345001	intron variant	G/A;C	snv			4
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
rs11870935	KPNB1		17	47655239	intron variant	G/A;C	snv			4
rs11902417			2	20976028	intergenic variant	G/A	snv		0.25	7
rs11925396			3	194391622	downstream gene variant	A/G	snv		1.9E-02	3
rs11987974	LOC105379376		8	36966299	intergenic variant	C/A;T	snv			4
rs12047226	DOCK7		1	62639867	intron variant	T/A;C	snv			4
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
rs12721046	APOC1		19	44917997	intron variant	G/A	snv		0.11	8