DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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
rs10519203	HYKK	0.851	0.080	15	78521704	intron variant	G/A	snv		0.67	1
rs10512597	RAB37 ; CD300LF			17	74703694	intron variant	T/A;C	snv			3
rs434943				14	68847342	intergenic variant	G/A	snv		0.27	3
rs1938492				1	65652146	intergenic variant	A/C	snv		0.43	3
rs1892534	LEPR	0.925	0.120	1	65640261	3 prime UTR variant	C/T	snv		0.44	1
rs7896783	JMJD1C			10	63402393	intron variant	G/A;C	snv			3
rs11230201	MS4A4E ; MS4A4A	1.000	0.080	11	60229521	intron variant	C/G;T	snv			1
rs7935829	MS4A6A	1.000	0.080	11	60175342	intron variant	A/G	snv		0.33	1
rs7232	MS4A6A	1.000	0.080	11	60173126	missense variant	T/A	snv	0.31	0.27	4
rs7204230	CHD9			16	53158419	intron variant	T/C	snv		0.31	3
rs12915708	SPPL2A			15	50756405	intron variant	G/A;C	snv			3
rs7968440	DIP2B			12	50740958	intron variant	A/G	snv		0.28	3
rs6010044				22	50663510	intergenic variant	A/C	snv		0.20	3
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	5
rs7224737	RAB5C			17	42137346	intron variant	G/A	snv		0.36	2
rs4817986				21	39093586	regulatory region variant	G/T	snv		0.22	3
rs16844401	HGFAC	1.000	0.040	4	3447925	missense variant	G/A;T	snv	7.5E-02; 8.3E-06		3
rs10157379	NLRP3			1	247442297	intron variant	C/G;T	snv			3
rs4925659	NLRP3			1	247440161	intron variant	G/A	snv		0.33	3
rs12239046	NLRP3			1	247438293	intron variant	T/C	snv		0.58	4
rs1539019	NLRP3	0.882	0.240	1	247436999	intron variant	A/C	snv		0.63	3
rs1476698	FARP2			2	241357034	intron variant	A/G;T	snv			3
rs10489615	GALNT2			1	230169242	intron variant	A/C;G	snv			2
rs2286503	TOMM7			7	22816987	intron variant	C/T	snv		0.48	3
rs715	CPS1	1.000	0.040	2	210678331	3 prime UTR variant	T/C	snv		0.28	3