DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs11359909		3	128603031	intergenic variant	G/-	delins		0.89	4
rs113604586	ALOX15	17	4639054	missense variant	T/C	snv	1.7E-03	1.6E-03	2
rs114050631		2	218156235	regulatory region variant	C/T	snv		6.9E-03	5
rs11428934	CA11 ; SEC1P	19	48640988	intron variant	-/G	ins			4
rs1144700	ATXN1	6	16744456	intron variant	C/G;T	snv			5
rs11465296	CCL24	7	75812976	intron variant	C/T	snv		4.9E-02	2
rs114743735	IRAK2	3	10186296	intron variant	C/G	snv		4.2E-02	2
rs11555542	ASB2	14	93951185	missense variant	T/C	snv	3.3E-02	3.7E-02	2
rs11624512	RIN3	14	92644775	non coding transcript exon variant	C/T	snv		0.15	5
rs11654074	VMP1	17	59748211	intron variant	A/C	snv		0.40	5
rs11669910	EXOC3L2 ; MARK4	19	45238075	intron variant	A/T	snv		0.23	2
rs11725704		4	74094279	downstream gene variant	A/G	snv		0.28	5
rs11734460	PCGF3	4	711285	intron variant	C/A;T	snv			4
rs11769630		7	50218107	intron variant	T/A	snv		5.4E-02	4
rs11786130	PVT1	8	127992729	intron variant	G/A	snv		0.31	2
rs117868203	GFI1B	9	132982259	intron variant	C/T	snv		1.1E-02	2
rs11931598	LOC100129931 ; TADA2B	4	7045375	intron variant	C/T	snv		0.55	4
rs12239046	NLRP3	1	247438293	intron variant	T/C	snv		0.58	7
rs12264390	LARP4B	10	913171	intron variant	T/C	snv		0.20	2
rs12266014	PRTFDC1	10	24922362	intron variant	C/T	snv		0.26	7
rs12408934	JAK1	1	64957764	intron variant	G/A	snv		6.1E-02	2
rs12413946	ZNF365	10	62671446	non coding transcript exon variant	T/C	snv		6.2E-02	2
rs12450688	PSMD3	17	39987976	intron variant	G/A	snv		0.56	3
rs12542907		8	67900953	intergenic variant	C/G	snv		0.29	5
rs12545733	LOC254896	8	23099490	intron variant	T/A;C	snv			2