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
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			23
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		19
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs2853961				6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3840870	COL1A1			17	50184820	3 prime UTR variant	-/CTTG	delins			13
rs4837892	TTLL11			9	121826025	intron variant	G/T	snv		0.36	13
rs7296503	PDZRN4			12	41306962	intron variant	C/T	snv		0.57	13
rs76792961	FAM234A			16	243594	intron variant	C/T	snv		7.3E-03	13
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	12
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			10
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs2277339	HSD17B6 ; PRIM1			12	56752285	missense variant	T/G	snv	0.12	0.14	10
rs218265				4	54542832	intergenic variant	T/C	snv		0.21	9
rs35979828	NFE2			12	54292096	intron variant	C/T	snv		5.0E-02	9
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8