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
rs115039395				2	102545057	intergenic variant	C/G	snv		1.4E-02	1
rs942017	LINC02323			14	102552390	intron variant	G/A	snv		0.37	1
rs113422568	SUFU			10	102578181	intron variant	G/A	snv		0.25	2
rs7475335	SUFU			10	102583671	intron variant	C/A	snv		0.26	1
rs6741115	SLC9A2			2	102673992	intron variant	T/C	snv		3.5E-02	1
rs62153409	TMEM182			2	102778250	intron variant	C/T	snv		2.7E-02	1
rs2436845	AZIN1			8	102840179	intron variant	G/A	snv		0.37	4
rs76358155	TRAF3			14	102866918	intron variant	T/A	snv		7.1E-02	1
rs10135205	LOC105378183 ; LOC105370686			14	103316504	regulatory region variant	A/G	snv		0.54	1
rs3759584	CKB			14	103524462	upstream gene variant	T/C	snv		0.27	1
rs4147915	ABCA7			19	1049306	synonymous variant	C/A;G	snv	0.18; 4.0E-06		3
rs1859161				4	105121535	downstream gene variant	C/T	snv		0.95	1
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	28
rs10864462	PEX14			1	10552101	intron variant	A/T	snv		0.11	1
rs513973	ATXN7L1			7	105673879	intron variant	A/T	snv		0.29	1
rs7589790	NCK2			2	105817452	intron variant	C/G	snv		0.30	1
rs13090803		1.000	0.040	3	106216106	intron variant	G/T	snv		0.15	2
rs10062687	ANKRD33B			5	10624754	missense variant	T/G	snv	0.18	0.20	1
rs3804333	ATG5			6	106279340	intron variant	C/A;T	snv			1
rs1883801	JAG1			20	10667031	intron variant	A/G	snv		0.14	1
rs7781571				7	106787724	intron variant	A/G	snv		0.84	1
rs3822411	DAP			5	10684830	intron variant	T/C	snv		0.42	2
rs6568466				6	107122949	intergenic variant	T/C	snv		0.58	2
rs17484960	VAV3			1	107794486	intron variant	G/A	snv		0.48	1
rs36084354	ARHGAP45			19	1079960	missense variant	G/A	snv	5.7E-02	5.9E-02	3