DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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 GENOME	Num. diseases
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv		25
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv		24
rs597808	ATXN2	0.742	0.200	12	111535554	intron variant	A/G	snv	0.67	19
rs7705526	TERT	0.776	0.240	5	1285859	intron variant	C/A;T	snv		15
rs13331259	FAM234A			16	249924	intron variant	A/G	snv	3.0E-02	14
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv	0.65	14
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv	6.9E-02	14
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv	0.37	13
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv	0.24	13
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv	0.20	13
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv		12
rs2179593	TOX2	0.790	0.080	20	44031646	intron variant	C/A	snv	0.71	11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv	2.1E-02	10
rs35979828	NFE2			12	54292096	intron variant	C/T	snv	5.0E-02	9
rs6700896	LEPR	0.827	0.160	1	65624099	intron variant	C/T	snv	0.44	9
rs17342717	SLC17A1			6	25821542	intron variant	C/T	snv	6.1E-02	8
rs17476364	HK1			10	69334748	intron variant	T/C	snv	6.4E-02	8
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv	0.40	8
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	7
rs129128	H2BC4 ; H2AC6			6	26125114	intron variant	C/T	snv	0.91	7
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	7
rs2283847	MN1			22	27785411	intron variant	C/A;G;T	snv		7
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv	2.0E-02	7
rs7225002	KANSL1	0.925	0.080	17	46111701	intron variant	A/G	snv	0.39	7
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv		7