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
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs12913832	HERC2	0.763	0.200	15	28120472	intron variant	A/G	snv		0.50	15
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs1129038	HERC2	0.851	0.120	15	28111713	3 prime UTR variant	C/T	snv	0.49	0.50	8
rs1393350	LOC107984363 ; TYR	0.851	0.160	11	89277878	intron variant	G/A	snv		0.17	7
rs1667394	HERC2			15	28285036	intron variant	C/A;T	snv			5
rs916977	HERC2	1.000	0.080	15	28268218	intron variant	T/C;G	snv			5
rs1635168	HERC2	1.000	0.040	15	28290120	intron variant	A/C	snv		0.77	3
rs8028689	HERC2			15	28243742	intron variant	T/C	snv		0.16	3
rs8039195	HERC2			15	28270938	intron variant	C/T	snv		0.65	3
rs12896399	LOC105370627			14	92307319	intergenic variant	G/T	snv		0.32	3
rs1847134	LOC107984363 ; TYR	0.925	0.080	11	89272085	intron variant	A/C	snv		0.26	3
rs7495174	OCA2			15	28099092	intron variant	A/G	snv		0.12	3
rs11636232	HERC2			15	28141480	synonymous variant	C/T	snv	0.25	0.26	2
rs16950987	HERC2			15	28281082	intron variant	G/A	snv		0.23	2
rs11855019	OCA2			15	28090674	intron variant	A/G;T	snv			2
rs1408799				9	12672097	intergenic variant	T/C	snv		0.51	1
rs72763726				5	82749027	regulatory region variant	C/T	snv		0.17	1
rs72776813				2	2788303	intron variant	G/A	snv		4.9E-02	1
rs12510870	AFM			4	73492560	intron variant	T/C	snv		0.17	1
rs13431891	CTNNA2			2	80378665	intron variant	A/G	snv		0.15	1
rs288139	FBXL17			5	108064804	intron variant	G/A	snv		0.20	1
rs12593929	HERC2			15	28114112	intron variant	G/A	snv		0.78	1
rs3935591	HERC2			15	28128866	intron variant	T/A;C	snv			1
rs2278745	HK1			10	69392335	intron variant	T/C	snv	0.56	0.57	1