DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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
rs10101067	EYA1			8	71495139	intron variant	G/C	snv		6.2E-02	2
rs1011731	DNM3 ; PIGC			1	172377408	intron variant	G/A	snv		0.46	4
rs10195252	COBLL1	0.925	0.080	2	164656581	intron variant	T/C	snv		0.48	7
rs10808546				8	125483576	intron variant	C/T	snv		0.39	7
rs1121980	FTO	0.807	0.240	16	53775335	intron variant	G/A;C	snv			18
rs1128249	COBLL1	1.000	0.080	2	164672114	intron variant	G/C;T	snv			10
rs112875651				8	125494452	intron variant	G/A	snv		0.31	7
rs12454712	BCL2	0.925	0.120	18	63178651	intron variant	T/A;C	snv			9
rs13389219	COBLL1	1.000	0.080	2	164672366	intron variant	C/T	snv		0.47	9
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv		0.28	13
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs2845885	FLRT1 ; MACROD1			11	64101590	intron variant	C/T	snv		0.87	5
rs2925979	CMIP	1.000	0.080	16	81501185	intron variant	T/A;C	snv			10
rs4660808	PPIEL			1	39552837	intron variant	C/T	snv		0.17	3
rs4738141	EYA1			8	71557507	intron variant	A/G	snv		0.41	3
rs56271783	VEGFB			11	64237251	intron variant	G/A;C;T	snv	3.6E-05; 3.7E-02		2
rs605066				6	139508529	intron variant	C/T	snv		0.53	6
rs634869				6	139510620	intron variant	T/A;C	snv			5
rs718314	LOC105369705	0.882	0.120	12	26300350	intron variant	A/G	snv		0.27	6
rs72959041	RSPO3			6	127133748	intron variant	G/A	snv		3.2E-02	5
rs797486	DLEU7 ; DLEU1			13	50647482	intron variant	C/A	snv		0.85	2
rs863750	ZNF664-RFLNA ; RFLNA			12	124020897	intron variant	C/T	snv		0.53	7
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs9991328	FAM13A			4	88791970	intron variant	C/T	snv		0.53	5
rs1358980	LOC105375070			6	43796814	intergenic variant	C/T	snv		0.40	6