DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		9
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	8
rs129128	H2BC4 ; H2AC6			6	26125114	intron variant	C/T	snv		0.91	7
rs4895441	LOC105378010	0.925	0.080	6	135105435	upstream gene variant	A/G	snv		0.21	7
rs9494145		0.925	0.080	6	135111414	intergenic variant	T/A;C	snv			7
rs130624				22	37042611	regulatory region variant	G/T	snv		0.47	6
rs17342717	SLC17A1			6	25821542	intron variant	C/T	snv		6.1E-02	6
rs228129	LOC112268295			22	37032558	upstream gene variant	A/G	snv		0.48	6
rs3887266	SLC17A3	0.925	0.120	6	25843518	intron variant	C/T	snv		8.9E-02	6
rs9376092	LOC105378010	0.851	0.120	6	135106006	upstream gene variant	C/A	snv		0.24	6
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6
rs1320963				6	135122074	intergenic variant	A/G	snv		0.35	5
rs1547247	HBS1L			6	135069698	intron variant	G/A	snv		0.22	5
rs12661667	USP49			6	41824807	intron variant	C/T	snv		0.20	4
rs13194491		1.000	0.040	6	27069301	intergenic variant	C/T	snv		4.8E-02	4
rs13220662	HBS1L			6	135074410	intron variant	G/A	snv		0.41	4
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			4
rs1421312	TMPRSS6			22	37091770	intron variant	A/G	snv		0.45	4
rs1569534				6	135130442	intergenic variant	C/T	snv		0.21	4
rs17064262				6	135144336	intergenic variant	T/C	snv		0.18	4
rs2050019				6	135142809	intergenic variant	C/T	snv		0.27	4
rs218237				4	54528005	intergenic variant	C/T	snv		0.18	4
rs2274089	CARMIL1			6	25488355	intron variant	C/T	snv		5.9E-02	4
rs2856646	H2AC6			6	26135270	intron variant	A/G	snv		0.73	4
rs3218097	CCND3			6	41937537	intron variant	G/A;T	snv			4