DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs9465922	CDKAL1	6	20865366	intron variant	C/A	snv		0.92	1
rs10414398	CEACAM20	19	44517149	missense variant	G/A	snv	0.14	0.15	1
rs748086331	CETN1	18	580583	missense variant	G/A	snv	4.0E-06		1
rs9521634	COL4A1	13	110181552	intron variant	T/A;C	snv			1
rs10478723	EDN1	6	12295228	intron variant	G/A	snv		0.15	1
rs1800542	EDN1	6	12292295	intron variant	G/A	snv	5.6E-02	0.11	1
rs4885493	EDNRB ; EDNRB-AS1	13	77908928	intron variant	C/G	snv		0.34	1
rs587777940	EGFR	7	55202667	missense variant	T/G	snv		7.0E-06	1
rs773902	F2RL3	19	16889821	missense variant	G/A	snv	0.24	0.31	1
rs2304556	FMNL2	2	152617280	intron variant	T/G	snv		0.36	1
rs202680	FOLH1	11	49200333	synonymous variant	T/A	snv	0.31	0.37	1
rs3803539	GABARAPL3	15	90348750	non coding transcript exon variant	A/G;T	snv			1
rs3732410	GOLGB1	3	121696873	missense variant	T/C;G	snv	0.23; 4.0E-06		1
rs754554	GSDME	7	24719199	missense variant	G/C;T	snv	7.2E-05; 0.20		1
rs17347800	HDAC9	7	18477656	intron variant	G/A;T	snv			1
rs28688791	HDAC9	7	18999982	3 prime UTR variant	T/A;C	snv			1
rs60401382	HTRA1	10	122468108	intron variant	C/T	snv		0.32	1
rs10089084	IDO1	8	39912430	intron variant	G/C	snv		0.30	1
rs3824259	IDO1	8	39912074	intron variant	C/A	snv		0.60	1
rs380092	IL1RN	2	113131323	intron variant	T/A	snv		0.57	1
rs11548491	INPPL1	11	72237492	missense variant	C/G;T	snv	9.6E-02		1
rs2415317	LINC00609 ; PTCSC3	14	36140472	intron variant	G/A	snv		0.46	1
rs11240065	LINC00624	1	147468451	intron variant	T/C	snv			1
rs148158062	LINC00624	1	147468451	intron variant	-/GTTCCTTC	delins			1
rs56352300	LINC00624	1	147468451	intron variant	-/GTTCCTTC	delins		0.42	1