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
rs10025419	EMCN			4	100647799	intron variant	G/A	snv		0.87	1
rs2866233	EMCN			4	100649444	intron variant	G/C;T	snv			1
rs2907092	CTNND2			5	11047569	intron variant	T/A;G	snv			1
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs2280828				8	117750197	intergenic variant	T/C	snv		4.2E-02	1
rs11914494	IGSF11			3	119121264	intron variant	G/A	snv		1.8E-02	2
rs11926663	IGSF11			3	119125638	intron variant	A/G	snv		1.8E-02	2
rs141827060	IGSF11			3	119132020	intron variant	C/T	snv		1.8E-02	2
rs17062789	DLGAP2			8	1203198	intron variant	G/A;C	snv			2
rs17062791	DLGAP2			8	1203431	intron variant	C/T	snv		0.14	2
rs73670671	DLGAP2			8	1203645	intron variant	T/C;G	snv			2
rs34003842	DLGAP2			8	1206131	intron variant	G/A;C;T	snv			2
rs4936767				11	123047451	upstream gene variant	A/G	snv		0.34	2
rs1461494				11	123055777	downstream gene variant	T/A;C	snv			2
rs4802	SNORD14E ; HSPA8			11	123057914	synonymous variant	A/C;G	snv	4.1E-06; 0.32		2
rs4936770	HSPA8 ; SNORD14E			11	123058167	intron variant	C/A;T	snv			2
rs11218976	CLMP			11	123090950	intron variant	A/G	snv		0.41	2
rs10892961	CLMP			11	123093392	intron variant	A/C;G;T	snv			2
rs7109445	CLMP			11	123094779	intron variant	A/C;G	snv			2
rs7121616	CLMP			11	123095918	intron variant	A/G	snv		0.41	2
rs179008	TLR7	0.763	0.360	X	12885540	missense variant	A/C;T	snv	0.18	0.18	14
rs7039098	OLFM1			9	135121473	downstream gene variant	T/C	snv		0.11	2
rs7035473	OLFM1			9	135121519	downstream gene variant	A/G	snv		0.11	2
rs7047901	OLFM1			9	135121569	downstream gene variant	G/C	snv		0.11	2
rs10119043				9	135122706	downstream gene variant	C/T	snv		0.11	2