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
rs10255839	EVX1			7	27249498	intron variant	G/A	snv		0.87	6
rs17249754	ATP2B1	0.882	0.120	12	89666809	intron variant	G/A	snv		0.15	12
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1887320				20	10985350	intron variant	G/A	snv		0.46	6
rs7129220	AMPD3 ; CAND1.11			11	10328991	intron variant	G/A	snv		0.10	5
rs805303	BAG6	0.925	0.160	6	31648589	intron variant	G/A	snv		0.45	7
rs633185	ARHGAP42	0.925	0.080	11	100722807	intron variant	G/A;C	snv			10
rs17035646	CASZ1			1	10736490	intron variant	G/A;T	snv			6
rs4590817	CABCOCO1			10	61707795	intron variant	G/C	snv		0.15	5
rs4373814				10	18131043	intergenic variant	G/C;T	snv			5
rs2306363	SIPA1			11	65638129	5 prime UTR variant	G/T	snv		0.15	7
rs1731249	KCNK3			2	26697157	intron variant	T/A	snv		0.48	5
rs419076	MECOM			3	169383098	intron variant	T/A;C	snv			6
rs2392929				7	106773623	upstream gene variant	T/A;C;G	snv			4
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	10
rs1573643	FURIN			15	90877743	intron variant	T/C	snv		0.33	5
rs1813353	CACNB2			10	18418519	intron variant	T/C	snv		0.29	5
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	10
rs3774372	ULK4	1.000	0.160	3	41835922	missense variant	T/C	snv	0.17	0.18	4
rs2681492	ATP2B1	0.925	0.040	12	89619312	intron variant	T/C;G	snv			10
rs62434109	PLEKHG1			6	150654176	intron variant	T/G	snv		8.4E-02	5