DisGeNET - a database of gene-disease associations

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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
rs9962915	EPB41L3 ; LOC100286986			18	5593172	intron variant	C/T	snv		0.40	2
rs9932625				16	51701835	intergenic variant	G/A	snv		0.23	2
rs9920185	LINC02694			15	38981374	intron variant	C/A;T	snv			1
rs9916302	FBXL20			17	39343696	intron variant	T/C	snv		0.35	3
rs9907229	BCAS3			17	60840038	intron variant	T/A;C	snv			1
rs9903801	BCAS3			17	60837900	intron variant	G/A;C	snv			1
rs9900967	SMG6			17	2104984	intron variant	T/A;C;G	snv			1
rs9895661	BCAS3	0.882	0.200	17	61379228	non coding transcript exon variant	C/T	snv		0.69	10
rs9894634	SMG6			17	2064207	intron variant	C/A;G;T	snv			1
rs9891340				17	17640532	regulatory region variant	T/A;C	snv			1
rs9891228				17	54100684	intron variant	C/T	snv		0.16	1
rs988911	USP34			2	61380375	intron variant	G/A;T	snv	0.19; 4.3E-06		1
rs9888796	SLC7A6			16	68263686	upstream gene variant	T/C	snv		0.80	1
rs9887775				1	23376038	downstream gene variant	A/G	snv		0.23	1
rs9868185	SLC15A2			3	121938746	intron variant	A/C;G	snv			1
rs9838792	EXOG			3	38505235	intron variant	G/A;T	snv			1
rs9828976	SLC35G2			3	136817993	upstream gene variant	C/G	snv		0.18	1
rs9823161	LOC102724877			3	194093379	intron variant	A/G;T	snv			1
rs9807656	SETBP1			18	44766991	intron variant	T/C	snv		0.12	1
rs9699681				1	214569966	regulatory region variant	T/C	snv		0.77	1
rs9682041	SKIL			3	170374114	intron variant	C/T	snv		0.84	2
rs9645418				1	55257216	intron variant	T/A;G	snv			1
rs963837	LOC101928338 ; LINC02859	0.925	0.120	11	30727543	intergenic variant	T/C	snv		0.35	8
rs9590675	DGKH			13	42175056	intron variant	G/T	snv		0.43	1
rs956006	TLN2			15	62516340	intron variant	C/T	snv		0.26	2