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 GENOME	Num. diseases
rs10016631	POLR2B			4	57019797	intron variant	A/G;T	snv		1
rs10075801	MIR3936HG ; SLC22A4			5	132341949	intron variant	A/G	snv	0.31	5
rs10087240	PVT1			8	128000328	intron variant	C/G;T	snv		2
rs10094382	CHD7			8	60860726	intron variant	C/T	snv	0.46	1
rs10098310	CCDC26			8	129601368	intron variant	G/A;T	snv		2
rs1010109	ARHGAP26			5	143174597	intron variant	A/G	snv	0.15	1
rs10129035				12	83706429	intergenic variant	T/A;C	snv		1
rs10138752	RAD51B			14	68713254	intron variant	C/T	snv	8.8E-02	5
rs10146637	FBXO34			14	55278092	intron variant	G/A	snv	0.30	1
rs1015022	LOC105372802 ; ERG			21	38507058	intron variant	G/C	snv	0.26	1
rs1016680				17	37514283	downstream gene variant	A/C	snv	0.74	1
rs10178094	RBMS1			2	160479895	intron variant	C/A;T	snv		1
rs10206089				2	61476184	intron variant	G/A	snv		4
rs10215854	PTCD1 ; CPSF4 ; ATP5MF-PTCD1			7	99439297	intron variant	G/A	snv	0.19	1
rs1023667				5	158541893	intron variant	G/A;C	snv		1
rs10252662				7	44771624	downstream gene variant	C/T	snv	0.37	1
rs10255299	DOCK4			7	111887504	intron variant	G/A	snv	0.11	1
rs1025688	MAPK4			18	50621506	intron variant	G/A	snv	0.35	3
rs10273974	ZC3HAV1			7	139050766	intron variant	A/C	snv	0.48	1
rs1029809	PIGL			17	16252921	intron variant	A/G	snv	0.41	1
rs10305751	ARNT			1	150810982	3 prime UTR variant	C/G;T	snv		1
rs1037117				15	101528455	upstream gene variant	G/A	snv	0.28	1
rs1040103	NTM			11	131572257	intron variant	A/G	snv	0.43	1
rs10409474	ELANE			19	850733	upstream gene variant	C/G	snv	0.16	1
rs10411936	EPS15L1	1.000	0.080	19	16437564	intron variant	A/G	snv	0.63	2