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
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs62482241	TFR2			7	100637885	intron variant	G/A	snv		0.23	2
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	14
rs9859077	SENP7			3	101417558	intron variant	G/A;C	snv	0.28		2
rs2288789	MACIR			5	103264823	intron variant	G/A	snv		0.31	2
rs10772280	KLRC2			12	10428441	intron variant	C/A;T	snv			2
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs6568571	CCDC162P			6	109292049	intron variant	A/C;T	snv			3
rs1008084	CCDC162P			6	109305762	intron variant	G/A	snv		0.40	3
rs9400273	CCDC162P			6	109311596	intron variant	A/G	snv		0.40	3
rs11966072	CCDC162P			6	109313625	intron variant	A/G	snv		0.26	4
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs10197140	ACOXL			2	110852366	intron variant	T/C	snv		0.28	3
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			24
rs2139376	MIR4435-2HG			2	111385836	intron variant	T/C	snv		0.44	2
rs62160676	MIR4435-2HG			2	111410354	intron variant	T/C;G	snv			5
rs143326447	MIR4435-2HG ; SOCAR	0.925	0.080	2	111511155	intron variant	T/C	snv		0.11	4
rs11683361	ANAPC1			2	111622982	intron variant	C/G	snv		0.70	2
rs3797733	NREP			5	111748162	intron variant	T/C	snv		0.15	2
rs148125759	UGCG			9	111901105	intron variant	T/C	snv		1.0E-02	4
rs368865	ATP11A			13	112825506	missense variant	A/C;G;T	snv	0.76; 4.0E-06		4
rs17116384	ZBTB16			11	114110519	intron variant	A/G	snv		0.25	3
rs117747069	NPRL3			16	120077	intron variant	G/C	snv		2.5E-02	4
rs2238368	NPRL3			16	120329	intron variant	C/T	snv		0.36	4
rs12196049				6	121464945	intergenic variant	A/C	snv		0.18	2