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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
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
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
rs12450688	PSMD3			17	39987976	intron variant	G/A	snv		0.56	3
rs12545733	LOC254896			8	23099490	intron variant	T/A;C	snv			2
rs12550612	TNFRSF10C			8	23109256	intron variant	G/A	snv		0.83	5
rs12935413	CLEC16A	1.000	0.080	16	11116590	intron variant	G/A	snv		0.34	2
rs13007211	VAMP8			2	85573959	intron variant	A/T	snv		0.31	2
rs13056815	LIMK2			22	31272264	intron variant	G/A;C	snv			2
rs13315649	RPN1			3	128672379	intron variant	T/A	snv		0.24	2
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs1352846	GC			4	71752058	intron variant	A/G	snv		0.22	4
rs139707092	SPC25 ; NOSTRIN			2	168850753	intron variant	TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT	delins			5
rs140948517	RHBDD2			7	75857462	intron variant	TT/-;T;TTT;TTTT;TTTTTTTTTTTT	delins			2
rs145013566	PNKD			2	218297998	intron variant	-/C	ins			5
rs147453535	CEBPE			14	23117837	intron variant	A/C	snv	6.3E-03	6.2E-03	2
rs147694761	NPC1			18	23571654	intron variant	AAAA/-;A;AA;AAA;AAAAA;AAAAAA	delins			5