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 EXOME	AF GENOME	Num. diseases
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs635634		0.882	0.160	9	133279427	upstream gene variant	T/A;C	snv			22
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
rs715	CPS1	1.000	0.040	2	210678331	3 prime UTR variant	T/C	snv		0.28	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
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs35979828	NFE2			12	54292096	intron variant	C/T	snv		5.0E-02	9
rs4760	PLAUR	1.000	0.080	19	43648948	missense variant	A/G	snv	0.12	0.11	8
rs3731211	CDKN2A			9	21986848	intron variant	T/A	snv		0.74	7
rs66505542	BUD13			11	116752498	intron variant	AA/-;A;AAA	delins			5
rs41313381	ADGRL4			1	78946283	missense variant	C/A;T	snv	1.9E-02; 3.3E-05		4
rs74612091				9	133001891	intergenic variant	T/A	snv		7.7E-02	4
rs11082513				18	46167187	intergenic variant	C/T	snv		0.42	3
rs2075995	E2F2 ; LOC101928163			1	23520972	missense variant	C/A	snv	0.45	0.39	3