DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs368755101	AFF3			2	100145754	intron variant	G/-	del		9.7E-04	1
rs13415465	AFF3			2	100147542	intron variant	T/G	snv		0.37	1
rs7799441	GPC2 ; STAG3			7	100178649	intron variant	T/A;C	snv			1
rs6479003	INVS			9	100186403	intron variant	A/G	snv		0.93	1
rs141516158				14	100235643	intron variant	C/T	snv		5.8E-02	1
rs10165255	CYS1			2	10059474	intron variant	A/G	snv		0.59	2
rs62482241	TFR2			7	100637885	intron variant	G/A	snv		0.23	2
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	6
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs143593369				7	100711557	downstream gene variant	A/G	snv		4.8E-03	1
rs551238	EPO	0.925	0.160	7	100723905	downstream gene variant	G/T	snv		0.62	2
rs2075671	ZAN			7	100747483	intron variant	G/A;C	snv			1
rs538605220				7	100903574	downstream gene variant	G/A	snv		2.9E-03	1
rs3020623	SERPINE1			7	101129564	intron variant	G/A	snv		0.32	2
rs142108859	BTRC			10	101405830	intron variant	C/A	snv		3.9E-04	1
rs9859077	SENP7			3	101417558	intron variant	G/A;C	snv	0.28		2
rs6543051	RFX8			2	101430369	intron variant	A/C;G;T	snv			1
rs1037116				15	101528701	upstream gene variant	C/T	snv		0.20	2
rs55995100	LOC107986832			7	101588352	intergenic variant	G/A	snv		0.34	1
rs55893317	SBF2			11	10159444	intron variant	A/G	snv		0.25	1
rs10955269	GRHL2			8	101653780	intron variant	C/A	snv		0.38	1
rs2690937				7	101765579	intergenic variant	C/G;T	snv			1
rs11042662	SBF2			11	10193627	intron variant	C/T	snv		0.27	1
rs28999676	RRM2B			8	102236572	intron variant	T/C	snv		0.10	1