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
rs11569302	CD40			20	46118465	intron variant	C/G;T	snv			4
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
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv			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
rs12047226	DOCK7			1	62639867	intron variant	T/A;C	snv			4
rs12258934	NRG3			10	82015079	intron variant	T/C	snv		5.1E-02	4
rs12423664	FBRSL1	1.000	0.040	12	132493308	intron variant	G/A	snv		0.10	6
rs12610185	PBX4			19	19610913	intron variant	G/A	snv		8.6E-02	4
rs12670798	DNAH11 ; LOC105375183	1.000	0.040	7	21567734	intron variant	T/C	snv		0.26	5
rs12686004	ABCA1	1.000	0.040	9	104891145	intron variant	G/A	snv		9.1E-02	6
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
rs12721235	AGTR1			3	148722587	intron variant	C/A	snv		1.7E-02	4
rs127430	APCDD1L-DT			20	58589799	intron variant	A/G;T	snv			6
rs13108218	HGFAC			4	3442204	intron variant	A/G;T	snv			7
rs1456649	FMN2			1	240288305	intron variant	G/C	snv		3.0E-03	5
rs150641967	HAPLN4			19	19259532	intron variant	AGAC/-;AGACAGAC	delins			4
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	24
rs1553318	HAVCR1			5	157052312	intron variant	G/A;C	snv	6.2E-03; 0.67		3
rs1565228	BDNF-AS			11	27564889	intron variant	G/A;C	snv			4