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
rs10185855	TBC1D8			2	101025798	intron variant	A/G	snv	0.35	4
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv	0.10	25
rs10415849	GATAD2A			19	19394278	intron variant	C/T	snv	0.12	4
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
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
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
rs11048456	LOC105369705	1.000	0.080	12	26310149	intron variant	C/T	snv	0.62	6
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
rs1128249	COBLL1	1.000	0.080	2	164672114	intron variant	G/C;T	snv		10
rs112875651				8	125494452	intron variant	G/A	snv	0.31	7
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv	1.7E-02	5
rs11465759	IL23R ; C1orf141			1	67166721	intron variant	T/G	snv	2.4E-02	4
rs115485095	CYP21A2 ; EHMT2			6	31888293	intron variant	G/A	snv		3
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv	2.1E-05	6