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 GENOME	Num. diseases
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv		23
rs13331259	FAM234A			16	249924	intron variant	A/G	snv	3.0E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv		13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv		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
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv		12
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv	6.9E-02	11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv	2.1E-02	10
rs2074356	HECTD4	0.763	0.280	12	112207597	intron variant	G/A	snv	3.8E-03	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
rs2283847	MN1			22	27785411	intron variant	C/A;G;T	snv		7
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	6
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	6
rs2979489	RBPMS			8	30423317	intron variant	G/A;C	snv		6
rs4737010	ANK1			8	41772929	intron variant	G/A	snv	0.32	6
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv	2.0E-02	6
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv	0.65	6
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv		6