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 GENOME	Num. diseases
rs10184428				2	164155317	intron variant	C/A;G	snv		5
rs10255839	EVX1			7	27249498	intron variant	G/A	snv	0.87	6
rs10776752	WNT2B			1	112501706	intron variant	G/T	snv	8.8E-02	4
rs10826334				10	59620724	intron variant	C/A;G	snv		3
rs10948071	ZNF318			6	43312975	intron variant	C/T	snv	0.46	4
rs11014166	CACNB2	0.882	0.040	10	18419869	intron variant	A/T	snv	0.27	8
rs1105955				6	126826023	intron variant	T/A	snv	0.44	3
rs11105352	ATP2B1			12	89632685	intron variant	G/A	snv	0.14	4
rs11105364	ATP2B1			12	89675499	intron variant	T/G	snv	0.15	4
rs111478946	ATP2B1			12	89665065	intron variant	G/A	snv	0.14	4
rs11191580	NT5C2	0.827	0.040	10	103146454	intron variant	T/C	snv	7.9E-02	12
rs11191593	NT5C2			10	103179458	intron variant	T/C	snv	9.0E-02	4
rs112862634	LINC00461 ; MEF2C-AS2			5	88674534	intron variant	G/C	snv	0.17	3
rs11636952	LMAN1L			15	74821981	intron variant	T/C	snv	0.48	5
rs11642015	FTO	0.925	0.120	16	53768582	intron variant	C/T	snv	0.31	7
rs11725969	GUCY1A1			4	155705436	intron variant	C/T	snv	0.24	5
rs12258967	CACNB2			10	18439030	intron variant	C/G;T	snv		4
rs12579302	ATP2B1	0.851	0.120	12	89656726	intron variant	A/G	snv	0.15	19
rs12630213	FGD5			3	14912904	intron variant	C/T	snv	0.68	4
rs1275982	KCNK3			2	26696221	intron variant	C/T	snv	0.48	3
rs1290784	MECOM			3	169379112	intron variant	C/A;T	snv		6
rs12940887	ZNF652			17	49325445	intron variant	C/T	snv	0.28	5
rs12978472	INSR			19	7257979	intron variant	C/G;T	snv		5
rs13002573				2	164058698	intron variant	A/G	snv	0.20	3
rs13139571	LOC107984032 ; GUCY1A1	1.000	0.040	4	155724361	intron variant	C/A	snv	0.22	9