DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs7827408	VPS13B			8	99527615	intron variant	C/T	snv		2.3E-02	3
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv		2.1E-05	6
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	8
rs9658736	FAS			10	89004160	intron variant	T/C	snv		9.4E-03	3
rs16880248	CNR1			6	88141968	3 prime UTR variant	G/T	snv		2.7E-02	5
rs12258934	NRG3			10	82015079	intron variant	T/C	snv		5.1E-02	4
rs11574728	CD36			7	80676025	intron variant	G/A	snv		7.5E-03	3
rs4385188	CERT1			5	75438537	intron variant	A/G	snv		0.33	4
rs3846663	HMGCR ; CERT1	0.882	0.120	5	75359901	intron variant	C/T	snv		0.35	4
rs737410	ARRB1			11	75315038	intron variant	A/G	snv		4.3E-02	6
rs16957552	BCAR1			16	75235226	missense variant	T/C	snv	6.8E-03	2.8E-02	4
rs34604640	KCNE3			11	74457448	missense variant	G/C	snv	1.0E-04	1.3E-04	4
rs1874148	VCL			10	74114657	intron variant	A/G	snv		1.8E-02	6
rs34183407	ALMS1			2	73454052	missense variant	C/T	snv	2.1E-05	3.5E-05	6
rs760242	DHCR7			11	71435530	missense variant	C/T	snv	2.2E-04	6.3E-05	6
rs28917504	CD4			12	6814956	missense variant	A/G	snv	1.5E-03	6.4E-03	4
rs17240378	LCAT			16	67942790	intron variant	G/C;T	snv	4.0E-06		6
rs11465759	IL23R ; C1orf141			1	67166721	intron variant	T/G	snv		2.4E-02	4
rs567279	PDE4B			1	66222346	intron variant	G/T	snv		0.97	4
rs34499590	LEPR			1	65616108	missense variant	C/G;T	snv	2.5E-03		3
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv			5
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv		0.39	5
rs1748197	DOCK7			1	62590441	intron variant	G/A	snv		0.42	5
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	5
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	5