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
rs10075801	MIR3936HG ; SLC22A4			5	132341949	intron variant	A/G	snv		0.31	5
rs10138752	RAD51B			14	68713254	intron variant	C/T	snv		8.8E-02	5
rs10173538	BAZ2B ; MARCHF7			2	159712765	intron variant	C/G;T	snv			5
rs1025688	MAPK4			18	50621506	intron variant	G/A	snv		0.35	3
rs10409243	S1PR2 ; DNMT1			19	10222312	3 prime UTR variant	C/A;G;T	snv			6
rs10858740				12	88451258	intergenic variant	A/G;T	snv		0.56	5
rs11137087				8	7048518	intergenic variant	A/G	snv		0.60	2
rs111930700	ACVR1B			12	51967869	intron variant	C/G	snv		8.4E-02	4
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs114050631				2	218156235	regulatory region variant	C/T	snv		6.9E-03	5
rs1144700	ATXN1			6	16744456	intron variant	C/G;T	snv			5
rs11654074	VMP1			17	59748211	intron variant	A/C	snv		0.40	5
rs11725704				4	74094279	downstream gene variant	A/G	snv		0.28	5
rs11734460	PCGF3			4	711285	intron variant	C/A;T	snv			4
rs11741826	CCDC125			5	69294573	intron variant	G/A;C	snv			3
rs11769630				7	50218107	intron variant	T/A	snv		5.4E-02	4
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
rs12266014	PRTFDC1			10	24922362	intron variant	C/T	snv		0.26	7
rs12440045		0.925	0.080	15	41490486	upstream gene variant	A/C	snv		0.67	6
rs12542907				8	67900953	intergenic variant	C/G	snv		0.29	5
rs12550612	TNFRSF10C			8	23109256	intron variant	G/A	snv		0.83	5
rs12593998	SPPL2A			15	50766432	upstream gene variant	A/C;G	snv			2
rs12600856				17	40007042	intergenic variant	T/C;G	snv			5
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55