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
rs724159951	DYRK1A	21	37493101	missense variant	T/C	snv			6
rs724159952	LOC105372797 ; DYRK1A	21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797	21	37490353	frameshift variant	-/A	delins			6
rs724159956	DYRK1A	21	37496249	frameshift variant	-/G	delins			6
rs1189909394	KCNK4-TEX40 ; KCNK4	11	64298178	missense variant	G/A;C	snv		7.0E-06	5
rs1565369746	KCNK4-TEX40 ; KCNK4	11	64297507	missense variant	C/A	snv			5
rs879255368	ATP1A3	19	41984953	missense variant	C/G;T	snv			5
rs1553510492	TBR1	2	161419040	missense variant	A/G	snv			4
rs1060499740	CINP	14	102348559	stop lost	A/C	snv			3
rs1461148946	FLNA	X	154354979	missense variant	A/C	snv		9.3E-06	3
rs1553315329	SPAST	2	32116153	stop gained	C/A;T	snv			3
rs115466046	KCNJ10	1	160042480	missense variant	C/T	snv	1.2E-02	1.1E-02	2
rs137939966	MYOCD	17	12752540	missense variant	A/G	snv	1.6E-04	8.4E-04	2
rs140646329	KCNJ10	1	160042283	missense variant	C/T	snv	2.0E-05	1.4E-05	2
rs1438466809	KCNJ1	11	128840191	missense variant	C/T	snv	4.0E-06		2
rs797044938	KCNQ2	20	63442529	missense variant	C/A;G	snv			2
rs9444348	NT5E	6	85465856	intron variant	G/A	snv		0.43	2
rs1057517891	POLG	15	89333346	stop gained	G/A	snv			1
rs1064793923	SCN8A	12	51699581	missense variant	A/C;G	snv			1
rs1085307920	KCNQ2	20	63444805	missense variant	C/T	snv			1
rs10974620	SPATA6L ; SLC1A1	9	4557296	intron variant	C/G;T	snv			1
rs11001109	ADK	10	74683339	intron variant	A/G	snv		0.68	1
rs1372605067	DEPDC5	22	31821593	frameshift variant	CT/-	delins	4.0E-06		1
rs1443445	NTRK2	9	84919243	intron variant	G/A	snv		0.81	1
rs1444879414	ALDH7A1	5	126595148	frameshift variant	-/T	delins	6.0E-06		1