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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs7310615	SH2B3	0.882		12	111427245	intron variant	C/G	snv		0.67	12
rs2521501	FES	0.925	0.080	15	90894158	intron variant	A/C;T	snv			10
rs2681492	ATP2B1	0.925	0.040	12	89619312	intron variant	T/C;G	snv			10
rs633185	ARHGAP42	0.925	0.080	11	100722807	intron variant	G/A;C	snv			10
rs13139571	LOC107984032 ; GUCY1A1	1.000	0.040	4	155724361	intron variant	C/A	snv		0.22	9
rs2306363	SIPA1			11	65638129	5 prime UTR variant	G/T	snv		0.15	7
rs10255839	EVX1			7	27249498	intron variant	G/A	snv		0.87	6
rs11099097				4	80246155	intergenic variant	C/T	snv		0.30	6
rs1290784	MECOM			3	169379112	intron variant	C/A;T	snv			6
rs17035646	CASZ1			1	10736490	intron variant	G/A;T	snv			6
rs11636952	LMAN1L			15	74821981	intron variant	T/C	snv		0.48	5
rs1573643	FURIN			15	90877743	intron variant	T/C	snv		0.33	5
rs1813353	CACNB2			10	18418519	intron variant	T/C	snv		0.29	5
rs35441				12	115115310	intergenic variant	C/T	snv		0.40	5
rs17613287	CACNB2			10	18430748	intron variant	A/T	snv		0.27	4
rs2392929				7	106773623	upstream gene variant	T/A;C;G	snv			4
rs2484294				10	114032303	intergenic variant	G/A	snv		0.70	4
rs4759319	HOXC4 ; HOXC6 ; HOXC5			12	54030947	intron variant	G/C;T	snv			4
rs11023906	SOX6			11	16302860	intron variant	G/A	snv		0.17	3
rs13280442				8	11610048	intergenic variant	C/A;G	snv			3
rs3762988	NPR3			5	32709547	5 prime UTR variant	C/T	snv		0.44	3
rs3828591	NPR3			5	32713002	intron variant	G/C	snv		0.43	3
rs4841465	XKR6			8	10962344	intron variant	C/G;T	snv			3