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
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
rs10986881	PBX3			9	125756807	intron variant	C/T	snv	1.8E-02	3
rs11193085	SORCS1			10	106873848	intron variant	G/A	snv	8.8E-02	3
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv	0.39	6
rs11465759	IL23R ; C1orf141			1	67166721	intron variant	T/G	snv	2.4E-02	4
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv	2.1E-05	6
rs11569302	CD40			20	46118465	intron variant	C/G;T	snv		4
rs11574728	CD36			7	80676025	intron variant	G/A	snv	7.5E-03	3
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv	0.57	6
rs11828157	MMP13			11	102947395	intron variant	G/A	snv	4.7E-02	5
rs12258934	NRG3			10	82015079	intron variant	T/C	snv	5.1E-02	4
rs12610185	PBX4			19	19610913	intron variant	G/A	snv	8.6E-02	4
rs12670798	DNAH11 ; LOC105375183	1.000	0.040	7	21567734	intron variant	T/C	snv	0.26	5
rs12708979	CETP			16	56978442	intron variant	C/T	snv	5.9E-03	3
rs12721046	APOC1			19	44917997	intron variant	G/A	snv	0.11	8
rs12721235	AGTR1			3	148722587	intron variant	C/A	snv	1.7E-02	4
rs1456649	FMN2			1	240288305	intron variant	G/C	snv	3.0E-03	5
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv	0.31	24
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv	0.69	14
rs16940391	LIPC			15	58507449	intron variant	C/A;G	snv		3