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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10054063		5	173965395	downstream gene variant	A/T	snv		0.26	4
rs10156121		7	142672656	downstream gene variant	T/C	snv		3.9E-02	4
rs10185855	TBC1D8	2	101025798	intron variant	A/G	snv		0.35	4
rs10408163	ZC3H4	19	47093845	non coding transcript exon variant	T/C	snv		0.52	6
rs10415849	GATAD2A	19	19394278	intron variant	C/T	snv		0.12	4
rs1041968	APOB	2	21009932	synonymous variant	G/A	snv	0.39	0.38	6
rs10500212	PBX4	19	19612406	intron variant	C/T	snv		0.10	4
rs10504062	PRKDC	8	47824663	intron variant	T/C	snv		2.1E-02	3
rs10518982	LIPC	15	58507555	intron variant	A/G	snv		2.2E-02	3
rs10761716		10	63122540	downstream gene variant	C/G	snv		0.40	3
rs10789117	DOCK7 ; ANGPTL3	1	62606594	intron variant	A/C;T	snv			5
rs10808546		8	125483576	intron variant	C/T	snv		0.39	7
rs10832027	ARNTL	11	13335636	intron variant	G/A	snv		0.67	5
rs10876041	DIP2B	12	50508099	intron variant	T/C	snv		0.58	4
rs10889348	DOCK7	1	62612551	intron variant	A/T	snv		0.32	4
rs10889353	DOCK7	1	62652525	intron variant	A/C;T	snv			5
rs10900522	NUCKS1	1	205714939	3 prime UTR variant	T/C	snv		0.21	4
rs10957054	UBXN2B	8	58423997	intron variant	C/T	snv		0.73	3
rs10986881	PBX3	9	125756807	intron variant	C/T	snv		1.8E-02	3
rs11079810	SKAP1	17	48150484	intron variant	C/T	snv		0.16	4
rs11193085	SORCS1	10	106873848	intron variant	G/A	snv		8.8E-02	3
rs11207995	DOCK7	1	62583880	intron variant	A/C;G	snv			4
rs11207997	DOCK7 ; ANGPTL3	1	62596235	intron variant	C/T	snv		0.39	6
rs112259268		17	43797377	downstream gene variant	C/A	snv		1.9E-02	6
rs112875651		8	125494452	intron variant	G/A	snv		0.31	7